Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMIM42_chr1_158122287_158133301	158123603	TC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(249): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0003t0002 a0002c0002t0001 a0003c0004t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 others(10): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0009g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0013g0000 a0001c0001t0014g0000 a0001c0001t0015g0000 a0001c0003t0002g0000 a0002c0002t0001g0000 a0003c0004t0002g0000	252	406	0.6207	-1	c.42 others(6): Show c.4258delG	SMIM42	ENSG00000288460.1	transcript	ENST00000672824.1	protein_coding		3683		chr1	TogoVar
SMIM42_chr1_158122287_158133301	158125368	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00544.hp1 others(81): Show HG00099.hp2 HG00140.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG02040.hp1 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18951.hp1 NA18951.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18984.hp2 NA19030.hp1 NA19030.hp2 NA19065.hp2 NA19068.hp2 NA19076.hp1 NA19077.hp1 NA19083.hp1 NA19089.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0006g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0006g0000 a0001c0001t0009g0000 a0001c0001t0014g0000	84	406	0.2069	-1	c.24 others(6): Show c.2493delC	SMIM42	ENSG00000288460.1	transcript	ENST00000672824.1	protein_coding		1918		chr1	TogoVar
SMIM42_chr1_158122287_158133301	158127601	CA CA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00609.hp2 others(54): Show HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00741.hp1 HG01256.hp2 HG01891.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03834.hp2 HG03942.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18969.hp1 NA18983.hp1 NA18991.hp2 NA18998.hp1 NA19000.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19067.hp1 NA19078.hp2 NA19085.hp2 NA19090.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012	a0001c0001t0004g0000 a0001c0001t0006g0000 a0001c0001t0008g0000 others(1): Show a0001c0001t0004g0000 a0001c0001t0006g0000 a0001c0001t0008g0000 a0001c0001t0012g0000	57	406	0.1404	-1	c.26 others(5): Show c.260delT	SMIM42	ENSG00000288460.1	transcript	ENST00000672824.1	protein_coding	1/1	260		chr1	TogoVar
SMIM42_chr1_158122287_158133301	158129830	AT AT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00673.hp1 others(47): Show HG00423.hp2 HG00609.hp1 HG00673.hp1 HG00741.hp1 HG01891.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03942.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18961.hp2 NA18969.hp1 NA18983.hp1 NA18991.hp2 NA19010.hp2 NA19011.hp1 NA19055.hp2 NA19057.hp2 NA19067.hp1 NA19078.hp2 NA19085.hp2 NA19090.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0008g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0008g0000	50	406	0.1232	-1	c.-17 others(6): Show c.-1757delA	SMIM42	ENSG00000288460.1	transcript	ENST00000672824.1	protein_coding		1530		chr1	TogoVar
SMIM42_chr1_158122287_158133301	158130325	CA CA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(250): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0003t0002 a0002c0002t0001 a0003c0004t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(11): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0009g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0013g0000 a0001c0001t0014g0000 a0001c0001t0015g0000 a0001c0003t0002g0000 a0002c0002t0001g0000 a0003c0004t0002g0000	253	406	0.6232	-1	c.-22 others(6): Show c.-2252delT	SMIM42	ENSG00000288460.1	transcript	ENST00000672824.1	protein_coding		2025		chr1	TogoVar
SMIM42_chr1_158122287_158133301	158131834	GT GT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(137): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 others(4): Show a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0009g0000 a0001c0001t0011g0000 a0001c0001t0014g0000 a0002c0002t0001g0000	140	406	0.3448	-1	c.-37 others(6): Show c.-3761delA	SMIM42	ENSG00000288460.1	transcript	ENST00000672824.1	protein_coding		3534		chr1	TogoVar
SMIM43_chr4_121753930_121770164	121755357	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02486.hp2 others(13): Show HG01884.hp1 HG02257.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG04199.hp1 NA18522.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0009 a0001c0001t0005g0034 a0001c0001t0009g0016 a0001c0001t0005g0009 a0001c0001t0005g0034 a0001c0001t0009g0016	16	438	0.0365	-1	c.56 others(6): Show c.5616delT	SMIM43	ENSG00000164112.14	transcript	ENST00000643802.2	protein_coding		3572		chr4	TogoVar
SMIM43_chr4_121753930_121770164	121761123	CA CA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp2 others(56): Show HG00140.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02055.hp1 HG02145.hp2 HG02165.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03710.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18952.hp2 NA18966.hp1 NA18968.hp1 NA18975.hp1 NA18982.hp2 NA18987.hp1 NA18999.hp1 NA19001.hp2 NA19063.hp1 NA19086.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0020 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0004g0043 a0001c0001t0008g0042 a0001c0001t0011g0056 a0001c0001t0012g0023 a0001c0001t0013g0045	59	438	0.1347	-1	c.49 others(9): Show c.499+414delT	SMIM43	ENSG00000164112.14	transcript	ENST00000643802.2	protein_coding	5/5			chr4	TogoVar
SMIM43_chr4_121753930_121770164	121767525	AT AT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(200): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0003g0003 a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0005g0009 a0001c0001t0005g0017 a0001c0001t0005g0024 a0001c0001t0005g0034 a0001c0001t0006g0011 a0001c0001t0007g0013 a0001c0001t0010g0022 a0001c0001t0011g0056 a0001c0001t0011g0059 a0001c0001t0017g0038 a0001c0001t0018g0039 a0001c0001t0019g0040 a0001c0001t0020g0032 a0001c0001t0021g0035 a0001c0001t0023g0057	203	438	0.4635	-1	c.-24 others(6): Show c.-2421delA	SMIM43	ENSG00000164112.14	transcript	ENST00000643802.2	protein_coding		2362		chr4	TogoVar
SMIM43_chr4_121753930_121770164	121768340	AT AT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(388): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(49): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0003g0003 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0004g0004 a0001c0001t0005g0009 a0001c0001t0005g0017 a0001c0001t0005g0024 a0001c0001t0005g0034 a0001c0001t0006g0011 a0001c0001t0007g0013 a0001c0001t0009g0016 a0001c0001t0010g0022 a0001c0001t0011g0056 a0001c0001t0011g0059 a0001c0001t0012g0023 a0001c0001t0013g0045 a0001c0001t0014g0025 a0001c0001t0015g0047 a0001c0001t0016g0036 a0001c0001t0017g0038 a0001c0001t0018g0039 a0001c0001t0019g0040 a0001c0001t0020g0032 a0001c0001t0021g0035 a0001c0001t0023g0057	391	438	0.8927	-1	c.-32 others(6): Show c.-3236delA	SMIM43	ENSG00000164112.14	transcript	ENST00000643802.2	protein_coding		3177		chr4	TogoVar
SMIM44_chr19_3477110_3488441	3479713	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02717.hp2 others(3): Show HG02145.hp1 HG02559.hp1 HG02717.hp2 HG02970.hp2 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0007 a0001c0002t0001g0003 a0001c0001t0004g0007 a0001c0002t0001g0003	6	400	0.0150	-1	c.30 others(6): Show c.3090delA	SMIM44	ENSG00000284638.2	transcript	ENST00000641816.2	protein_coding		2396		chr19	TogoVar
SMIM44_chr19_3477110_3488441	3479714	TA TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(114): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18940.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19086.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0004 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0004	117	400	0.2925	-1	c.30 others(6): Show c.3089delT	SMIM44	ENSG00000284638.2	transcript	ENST00000641816.2	protein_coding		2395		chr19	TogoVar
SMIM44_chr19_3477110_3488441	3484414	CA CA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(192): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18999.hp2 NA19000.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19080.hp2 NA19082.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0002c0003 others(1): Show a0001c0001 a0001c0006 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0006t0001 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0004 others(6): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0004 a0001c0001t0005g0010 a0001c0001t0007g0013 a0001c0001t0008g0012 a0001c0006t0001g0009 a0002c0003t0001g0005 a0004c0005t0001g0008	195	400	0.4875	-1	c.-10 others(6): Show c.-1012delT	SMIM44	ENSG00000284638.2	transcript	ENST00000641816.2	protein_coding		974		chr19	TogoVar
SMIM44_chr19_3477110_3488441	3485287	AT AT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp2 others(122): Show HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02602.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02970.hp2 HG03239.hp2 HG03486.hp1 HG03669.hp1 HG04199.hp2 NA18612.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0003c0004t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0006g0011 others(2): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0006g0011 a0001c0002t0001g0003 a0003c0004t0002g0006	125	400	0.3125	-1	c.-18 others(6): Show c.-1885delA	SMIM44	ENSG00000284638.2	transcript	ENST00000641816.2	protein_coding		1847		chr19	TogoVar
SMIM44_chr19_3477110_3488441	3487872	CT CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(135): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02602.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03490.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0003c0004t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0006g0011 others(2): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0006g0011 a0001c0002t0001g0003 a0003c0004t0002g0006	138	400	0.3450	-1	c.-44 others(6): Show c.-4470delA	SMIM44	ENSG00000284638.2	transcript	ENST00000641816.2	protein_coding		4432		chr19	TogoVar
SMIM45_chr22_41947150_41963939	41947367	CT CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00639.hp1 others(176): Show HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18992.hp1 NA18999.hp1 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19085.hp2 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0152 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0034 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0004g0011 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0038 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0100 a0001c0001t0005g0002 a0001c0001t0005g0008 a0001c0001t0005g0014 a0001c0001t0005g0021 a0001c0001t0005g0025 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0061 a0001c0001t0006g0003 a0001c0001t0006g0005 a0001c0001t0006g0015 a0001c0001t0006g0018 a0001c0001t0006g0039 a0001c0001t0006g0114 a0001c0001t0007g0017 a0001c0001t0007g0028 a0001c0001t0007g0084 a0001c0001t0008g0030 a0001c0001t0008g0041 a0001c0001t0008g0107 a0001c0001t0008g0110 a0001c0001t0009g0010 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0009g0071 a0001c0001t0009g0072 a0001c0001t0011g0002 a0001c0001t0011g0014 a0001c0001t0013g0010 a0001c0001t0014g0010 a0001c0001t0016g0088 a0001c0001t0017g0077 a0001c0001t0018g0056 a0001c0001t0019g0037 a0001c0001t0020g0010 a0001c0001t0021g0073 a0001c0001t0022g0078 a0001c0001t0023g0010 a0001c0001t0024g0075 a0001c0001t0025g0008 a0001c0001t0026g0025 a0001c0001t0028g0076 a0001c0001t0030g0098 a0001c0001t0031g0002 a0001c0001t0032g0033 a0001c0001t0033g0033	179	382	0.4686	-1	c.-50 others(6): Show c.-5068delT	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding		4782		chr22	TogoVar
SMIM45_chr22_41947150_41963939	41949243	CA CA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01109.hp2 others(23): Show HG00639.hp2 HG01074.hp1 HG01109.hp2 HG01243.hp1 HG01496.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03490.hp2 NA18522.hp1 NA18984.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0033	a0001c0001t0001g0026 a0001c0001t0001g0074 a0001c0001t0003g0013 others(18): Show a0001c0001t0001g0026 a0001c0001t0001g0074 a0001c0001t0003g0013 a0001c0001t0004g0085 a0001c0001t0009g0010 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0009g0071 a0001c0001t0009g0072 a0001c0001t0012g0027 a0001c0001t0013g0010 a0001c0001t0014g0010 a0001c0001t0017g0077 a0001c0001t0019g0037 a0001c0001t0020g0010 a0001c0001t0021g0073 a0001c0001t0022g0078 a0001c0001t0023g0010 a0001c0001t0024g0075 a0001c0001t0028g0076 a0001c0001t0033g0033	26	382	0.0681	-1	c.-31 others(6): Show c.-3192delA	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding		2906		chr22	TogoVar
SMIM45_chr22_41947150_41963939	41953740	GT GT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(50): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG01175.hp2 HG01516.hp1 HG01516.hp2 HG01943.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02451.hp2 HG03491.hp2 HG03492.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18953.hp2 NA18961.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18993.hp2 NA18995.hp2 NA19011.hp2 NA19054.hp1 NA19057.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0029	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0019 others(19): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0002g0102 a0001c0001t0002g0115 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0124 a0001c0001t0010g0126 a0001c0001t0029g0019	53	382	0.1387	-1	c.-15 others(9): Show c.-15+1347delT	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM45_chr22_41947150_41963939	41953990	CA CA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00733.hp2 others(48): Show HG00140.hp1 HG00323.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03834.hp2 NA18906.hp2 NA18962.hp2 NA18992.hp2 NA19043.hp1 NA19055.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0001t0030	a0001c0001t0001g0152 a0001c0001t0003g0066 a0001c0001t0004g0011 others(27): Show a0001c0001t0001g0152 a0001c0001t0003g0066 a0001c0001t0004g0011 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0029 a0001c0001t0004g0038 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0007g0017 a0001c0001t0007g0028 a0001c0001t0007g0084 a0001c0001t0016g0088 a0001c0001t0030g0098	51	382	0.1335	-1	c.-15 others(9): Show c.-15+1584delA	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM45_chr22_41947150_41963939	41954202	AT AT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(94): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01071.hp2 HG01243.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03834.hp2 HG04184.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18961.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18987.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19080.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0019 others(44): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0002g0039 a0001c0001t0004g0011 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0029 a0001c0001t0004g0038 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0100 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0039 a0001c0001t0006g0124 a0001c0001t0007g0017 a0001c0001t0007g0028 a0001c0001t0007g0084 a0001c0001t0010g0149 a0001c0001t0027g0093 a0001c0001t0029g0019 a0001c0001t0030g0098	97	382	0.2539	-1	c.-15 others(9): Show c.-15+1803delT	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM45_chr22_41947150_41963939	41955184	AT AT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00733.hp1 others(76): Show HG00280.hp1 HG00639.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02071.hp2 HG02109.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18962.hp2 NA18969.hp2 NA18975.hp1 NA18982.hp1 NA18984.hp2 NA18992.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033	a0001c0001t0001g0044 a0001c0001t0001g0118 a0001c0001t0003g0002 others(37): Show a0001c0001t0001g0044 a0001c0001t0001g0118 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0034 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0004g0091 a0001c0001t0005g0002 a0001c0001t0005g0008 a0001c0001t0005g0014 a0001c0001t0005g0021 a0001c0001t0005g0025 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0061 a0001c0001t0011g0002 a0001c0001t0011g0009 a0001c0001t0011g0014 a0001c0001t0018g0056 a0001c0001t0025g0008 a0001c0001t0026g0025 a0001c0001t0031g0002 a0001c0001t0032g0033 a0001c0001t0033g0033	79	382	0.2068	-1	c.-14 others(9): Show c.-14-2475delT	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM45_chr22_41947150_41963939	41955629	AC AC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02258.hp2 others(2): Show HG01884.hp2 HG02055.hp1 HG02258.hp2 HG02818.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0079 a0001c0001t0004g0022 a0001c0001t0004g0079	5	382	0.0131	-1	c.-14 others(9): Show c.-14-2039delC	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM45_chr22_41947150_41963939	41955805	CA CA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00733.hp1 others(60): Show HG00280.hp1 HG00639.hp1 HG00733.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02071.hp2 HG02258.hp1 HG02293.hp2 HG02572.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03130.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18962.hp2 NA18969.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18984.hp2 NA18992.hp1 NA19054.hp2 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0031	a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 others(28): Show a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0034 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0005g0002 a0001c0001t0005g0014 a0001c0001t0005g0021 a0001c0001t0005g0055 a0001c0001t0005g0058 a0001c0001t0005g0061 a0001c0001t0006g0124 a0001c0001t0011g0002 a0001c0001t0011g0009 a0001c0001t0011g0014 a0001c0001t0031g0002	63	382	0.1649	-1	c.-14 others(9): Show c.-14-1847delA	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM45_chr22_41947150_41963939	41956020	CT CT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG01109.hp2 others(21): Show HG00639.hp2 HG01099.hp1 HG01109.hp2 HG01243.hp1 HG01496.hp1 HG01891.hp1 HG02055.hp2 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp2 HG03195.hp1 HG03471.hp1 NA18522.hp1 NA18994.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028	a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0001g0136 others(16): Show a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0009g0010 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0009g0071 a0001c0001t0009g0072 a0001c0001t0012g0027 a0001c0001t0013g0010 a0001c0001t0014g0010 a0001c0001t0017g0077 a0001c0001t0019g0037 a0001c0001t0020g0010 a0001c0001t0021g0073 a0001c0001t0022g0078 a0001c0001t0023g0010 a0001c0001t0024g0075 a0001c0001t0028g0076	24	382	0.0628	-1	c.-14 others(9): Show c.-14-1638delT	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM45_chr22_41947150_41963939	41957360	AT AT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(229): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0029	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0006g0003 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0018 a0001c0001t0006g0039 a0001c0001t0006g0114 a0001c0001t0006g0124 a0001c0001t0008g0030 a0001c0001t0008g0041 a0001c0001t0008g0107 a0001c0001t0008g0110 a0001c0001t0010g0001 a0001c0001t0010g0004 a0001c0001t0010g0126 a0001c0001t0010g0149 a0001c0001t0015g0001 a0001c0001t0029g0019	232	382	0.6073	-1	c.-14 others(8): Show c.-14-297delT	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM45_chr22_41947150_41963939	41961478	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01934.hp1 HG02280.hp1 others(3): Show HG01891.hp2 HG01934.hp1 HG02280.hp1 HG02965.hp1 HG03130.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0018 a0001c0001t0008 a0001c0001t0018	a0001c0001t0008g0030 a0001c0001t0008g0041 a0001c0001t0008g0110 others(1): Show a0001c0001t0008g0030 a0001c0001t0008g0041 a0001c0001t0008g0110 a0001c0001t0018g0056	6	382	0.0157	-1	c.35 others(6): Show c.3587delT	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding		2540		chr22	TogoVar
SMIM45_chr22_41947150_41963939	41961676	GT GT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(277): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0034 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0005g0002 a0001c0001t0005g0008 a0001c0001t0005g0014 a0001c0001t0005g0021 a0001c0001t0005g0025 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0061 a0001c0001t0006g0003 a0001c0001t0006g0006 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0039 a0001c0001t0006g0114 a0001c0001t0006g0124 a0001c0001t0008g0030 a0001c0001t0008g0041 a0001c0001t0008g0107 a0001c0001t0008g0110 a0001c0001t0009g0071 a0001c0001t0009g0072 a0001c0001t0010g0001 a0001c0001t0010g0004 a0001c0001t0010g0126 a0001c0001t0010g0149 a0001c0001t0011g0002 a0001c0001t0011g0009 a0001c0001t0011g0014 a0001c0001t0015g0001 a0001c0001t0017g0077 a0001c0001t0018g0056 a0001c0001t0025g0008 a0001c0001t0026g0025 a0001c0001t0028g0076 a0001c0001t0031g0002 a0001c0001t0032g0033 a0001c0001t0033g0033	280	382	0.7330	-1	c.37 others(6): Show c.3785delT	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding		2738		chr22	TogoVar
SMIM45_chr22_41947150_41963939	41962346	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00733.hp2 others(51): Show HG00140.hp1 HG00323.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03834.hp2 NA18906.hp2 NA18992.hp2 NA19043.hp1 NA19068.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030	a0001c0001t0002g0103 a0001c0001t0003g0009 a0001c0001t0004g0011 others(30): Show a0001c0001t0002g0103 a0001c0001t0003g0009 a0001c0001t0004g0011 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0029 a0001c0001t0004g0038 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0005g0055 a0001c0001t0007g0017 a0001c0001t0007g0028 a0001c0001t0007g0084 a0001c0001t0016g0088 a0001c0001t0019g0037 a0001c0001t0024g0075 a0001c0001t0027g0093 a0001c0001t0030g0098	54	382	0.1414	-1	c.44 others(6): Show c.4455delT	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding		3408		chr22	TogoVar
SMIM45_chr22_41947150_41963939	41962374	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01496.hp2 HG02735.hp1 others(3): Show HG01169.hp2 HG01496.hp2 HG02735.hp1 HG03491.hp2 NA19054.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0044 a0001c0001t0002g0039 a0001c0001t0006g0006	6	382	0.0157	-1	c.44 others(6): Show c.4483delT	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding		3436		chr22	TogoVar
SMIM45_chr22_41947150_41963939	41962787	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp2 others(91): Show HG00140.hp1 HG00140.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG01071.hp2 HG01109.hp2 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18973.hp1 NA18974.hp1 NA18986.hp1 NA18992.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19059.hp1 NA19077.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0146 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0146 a0001c0001t0002g0039 a0001c0001t0002g0115 a0001c0001t0004g0011 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0029 a0001c0001t0004g0038 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0005g0008 a0001c0001t0005g0025 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0057 a0001c0001t0007g0017 a0001c0001t0007g0028 a0001c0001t0007g0084 a0001c0001t0009g0010 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0009g0071 a0001c0001t0009g0072 a0001c0001t0012g0027 a0001c0001t0013g0010 a0001c0001t0014g0010 a0001c0001t0016g0088 a0001c0001t0017g0077 a0001c0001t0018g0056 a0001c0001t0019g0037 a0001c0001t0020g0010 a0001c0001t0021g0073 a0001c0001t0022g0078 a0001c0001t0023g0010 a0001c0001t0024g0075 a0001c0001t0025g0008 a0001c0001t0026g0025 a0001c0001t0027g0093 a0001c0001t0028g0076 a0001c0001t0030g0098 a0001c0001t0032g0033 a0001c0001t0033g0033	94	382	0.2461	-1	c.48 others(6): Show c.4896delT	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding		3849		chr22	TogoVar
SMIM46_chr19_14107324_14117476	14109937	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00741.hp1 HG01256.hp2 others(14): Show HG00438.hp2 HG00741.hp1 HG01256.hp2 HG01261.hp2 HG02056.hp1 HG02155.hp2 HG02280.hp2 HG02293.hp2 HG03669.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18960.hp2 NA18981.hp1 NA18990.hp2 NA19066.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	17	368	0.0462	-1	c.23 others(6): Show c.2386delT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2386		chr19	TogoVar
SMIM46_chr19_14107324_14117476	14109966	AT AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01257.hp1 HG01258.hp1 others(3): Show HG00423.hp1 HG01257.hp1 HG01258.hp1 HG01975.hp1 HG03486.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	6	368	0.0163	-1	c.23 others(6): Show c.2357delA	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2357		chr19	TogoVar
SMIM46_chr19_14107324_14117476	14111397	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01256.hp1 HG01257.hp2 others(10): Show HG01169.hp1 HG01256.hp1 HG01257.hp2 HG02132.hp1 HG03490.hp2 NA18942.hp1 NA18946.hp1 NA19011.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19077.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	13	368	0.0353	-1	c.92 others(5): Show c.926delT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		926		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50781418	AG AG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02647.hp2 NA18522.hp2 HG01884.hp1 HG02647.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	352	0.0085	-1	c.43 others(6): Show c.4393delC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		4309		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50781797	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(72): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01069.hp2 HG01070.hp1 HG01358.hp1 HG01884.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02155.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02647.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02897.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG04184.hp1 HG06807.hp1 NA18612.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18954.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19054.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19087.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0004 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0004	75	352	0.2131	-1	c.40 others(6): Show c.4014delT	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		3930		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50782265	TA TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00642.hp1 others(49): Show HG00423.hp2 HG00544.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01884.hp2 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03516.hp1 NA18522.hp2 NA18970.hp2 NA18972.hp2 NA18990.hp1 NA18999.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19065.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	52	352	0.1477	-1	c.35 others(6): Show c.3546delT	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		3462		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50782435	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00738.hp2 others(44): Show HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02273.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03688.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA18973.hp1 NA18982.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0006 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0006	47	352	0.1335	-1	c.33 others(6): Show c.3376delT	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		3292		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50783330	AT AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(69): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01517.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp2 HG02080.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp1 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04204.hp1 HG06807.hp2 NA18945.hp1 NA18945.hp2 NA18954.hp2 NA18964.hp2 NA18967.hp1 NA18972.hp1 NA18983.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19056.hp2 NA19067.hp2 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19087.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0005	72	352	0.2046	-1	c.24 others(6): Show c.2481delA	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		2397		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50783534	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 NA18954.hp2 NA18990.hp2 others(1): Show HG00621.hp1 NA18954.hp2 NA18990.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	352	0.0114	-1	c.22 others(6): Show c.2277delC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		2193		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784549	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG03491.hp1 NA18964.hp1 others(1): Show HG02155.hp2 HG03491.hp1 NA18964.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	352	0.0114	-1	c.12 others(6): Show c.1262delC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1178		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784952	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00733.hp2 others(52): Show HG00423.hp2 HG00544.hp1 HG00733.hp2 HG00741.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp2 HG04115.hp1 NA18522.hp2 NA18970.hp2 NA18972.hp2 NA18990.hp1 NA18999.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19065.hp1 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	55	352	0.1563	-1	c.85 others(5): Show c.859delT	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		775		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50785127	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02109.hp1 NA18954.hp1 others(1): Show HG00323.hp1 HG02109.hp1 NA18954.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0006 a0001c0001t0001g0001 a0001c0001t0003g0006	4	352	0.0114	-1	c.68 others(5): Show c.684delC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		600		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50785711	GT GT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(143): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18945.hp1 NA18945.hp2 NA18954.hp2 NA18964.hp2 NA18967.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0002t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0002t0001g0005	146	352	0.4148	-1	c.10 others(5): Show c.100delA	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		16		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50789552	CA CA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(183): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0005	186	352	0.5284	-1	c.-34 others(6): Show c.-3449delT	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		3393		chr19	TogoVar
SMIM5_chr17_75628434_75646404	75630000	AG AG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01081.hp2 HG01361.hp2 others(17): Show HG00741.hp2 HG01081.hp2 HG01361.hp2 HG01928.hp2 HG01943.hp1 HG02015.hp1 HG02257.hp1 HG02647.hp2 HG03225.hp2 NA18946.hp1 NA18949.hp1 NA18973.hp2 NA18981.hp1 NA18985.hp2 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19057.hp2 NA19070.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	20	412	0.0485	-1	c.-42 others(6): Show c.-4238delG	SMIM5	ENSG00000204323.5	transcript	ENST00000375215.3	protein_coding		3433		chr17	TogoVar
SMIM5_chr17_75628434_75646404	75646179	AG AG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(400): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0004t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0003g0001 a0001c0001t0004g0003 a0001c0001t0005g0003 a0001c0001t0006g0041 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0001t0009g0002 a0001c0001t0010g0003 a0001c0001t0011g0029 a0001c0001t0012g0001 a0001c0001t0013g0001 a0001c0004t0002g0003 a0002c0002t0001g0001 a0003c0003t0001g0004	403	412	0.9782	-1	c.52 others(6): Show c.5283delG	SMIM5	ENSG00000204323.5	transcript	ENST00000375215.3	protein_coding		4776		chr17	TogoVar
SMIM6_chr17_75641251_75652974	75646179	AG AG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(404): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0003g0001 a0001c0001t0004g0001 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0011g0001 a0002c0002t0001g0001	407	416	0.9784	-1	c.-61 others(5): Show c.-613delG	SMIM6	ENSG00000259120.3	transcript	ENST00000579469.2	protein_coding		71		chr17	TogoVar
SMIM6_chr17_75641251_75652974	75648144	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(161): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02602.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0004g0001 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0004g0001 a0001c0001t0010g0001 a0001c0001t0011g0001 a0002c0002t0001g0001	164	416	0.3942	-1	c.58 others(5): Show c.580delG	SMIM6	ENSG00000259120.3	transcript	ENST00000579469.2	protein_coding		171		chr17	TogoVar
SMIM6_chr17_75641251_75652974	75648671	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(210): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0006g0001 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0001t0009g0001	213	416	0.5120	-1	c.11 others(6): Show c.1107delT	SMIM6	ENSG00000259120.3	transcript	ENST00000579469.2	protein_coding		698		chr17	TogoVar
SMIM7_chr19_16641148_16665144	16641296	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02109.hp1 others(25): Show HG01109.hp2 HG01891.hp2 HG02109.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 NA18946.hp1 NA18948.hp1 NA19043.hp1 NA19074.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0002g0002 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0002g0002 a0001c0001t0003g0005 a0001c0001t0003g0020 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0068 a0001c0001t0003g0102 a0001c0001t0003g0108 a0001c0001t0003g0114 a0001c0001t0003g0126 a0001c0001t0004g0003 a0001c0001t0004g0044 a0001c0001t0007g0060	28	360	0.0778	-1	c.59 others(6): Show c.5949delA	SMIM7	ENSG00000214046.9	transcript	ENST00000487416.7	protein_coding		4851		chr19	TogoVar

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