Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

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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
SPDYE10_chr7_73099008_73160431	73156130	ACACACAC others(35): Show ACACACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp2 NA18945.hp1 HG00609.hp1 HG00621.hp2 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0103 a0001c0002t0001g0110 a0001c0002t0001g0064 a0001c0002t0001g0103 a0001c0002t0001g0110	3	216	0.0139	-42	c.-14 others(53): Show c.-1489_-1448delAGAGACAGACAGAGAGAGAGAGAGAGAGAGAGAG TGTGTGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		700		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156132	ACACACAC others(35): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0215 a0001c0005t0014g0215	1	216	0.0046	-42	c.-14 others(53): Show c.-1491_-1450delAGAGAGACAGACAGAGAGAGAGAGAGAGAGAGAG AGTGTGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		702		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156134	ACACACTC others(35): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG02602.hp2 HG02735.hp1 HG01515.hp1 HG02602.hp2 HG02735.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0010 a0001c0002 a0007c0010	a0001c0002t0001 a0007c0010t0001 a0001c0002t0001 a0007c0010t0001	a0001c0002t0001g0071 a0001c0002t0001g0081 a0007c0010t0001g0074 a0001c0002t0001g0071 a0001c0002t0001g0081 a0007c0010t0001g0074	3	216	0.0139	-42	c.-14 others(53): Show c.-1493_-1452delAGAGAGAGACAGACAGAGAGAGAGAGAGAGAGAG AGAGTGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		704		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156136	ACACTCTC others(35): Show ACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	216	0.0046	-42	c.-14 others(53): Show c.-1495_-1454delAGAGAGAGAGACAGACAGAGAGAGAGAGAGAGAG AGAGAGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		706		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156138	ACTCTCTC others(35): Show ACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0005 a0001c0005t0005g0005	1	216	0.0046	-42	c.-14 others(53): Show c.-1497_-1456delAGAGAGAGAGAGACAGACAGAGAGAGAGAGAGAG AGAGAGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		708		chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76541943	TAAGAGTG others(35): Show TAAGAGTGAGATTATCATGTACAAGAGTGAGATTATCACGTAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19240.hp2 HG02717.hp2 NA19240.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0012 a0007c0007t0012	a0007c0007t0012g0052 a0007c0007t0012g0053 a0007c0007t0012g0052 a0007c0007t0012g0053	2	255	0.0078	-42	c.-42 others(58): Show c.-421-105_-421-64delGTACGTGATAATCTCACTCTTGTACATGA TAATCTCACTCTT	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	1/8			chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67278118	TCTCTTGT others(35): Show TCTCTTGTACATGATAATCTCACTCTTGCACATGATAATCTCA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18906.hp2 NA21309.hp1 HG02647.hp1 NA18906.hp2 NA21309.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0012 a0001c0001 a0011c0012	a0001c0001t0003 a0011c0012t0004 a0001c0001t0003 a0011c0012t0004	a0001c0001t0003g0125 a0011c0012t0004g0055 a0001c0001t0003g0125 a0011c0012t0004g0055	3	460	0.0065	-42	c.-42 others(58): Show c.-422-105_-422-64delGCACATGATAATCTCACTCTTGTACATGA TAATCTCACTCTT	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24270290	CGTATATA others(35): Show CGTATATATATATGTATATATATACATATATATATACGTATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0023 a0001c0001t0009 a0001c0001t0023	a0001c0001t0009g0083 a0001c0001t0009g0085 a0001c0001t0023g0081 a0001c0001t0009g0083 a0001c0001t0009g0085 a0001c0001t0023g0081	3	326	0.0092	-42	c.-83 others(51): Show c.-834_-793delGTATATATATATGTATATATATACATATATATATAC GTATAT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		540		chr22	TogoVar
SPECC1_chr17_20004359_20324026	20294628	CGGTGGTG others(35): Show CGGTGGTGGGGATGATGGTCATGGTTATGAAGGTACTGATGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(85): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18951.hp1 NA18957.hp1 NA18966.hp2 NA18968.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18998.hp1 NA19004.hp1 NA19009.hp2 NA19012.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0001c0009 others(3): Show a0001c0001 a0001c0008 a0001c0009 a0001c0011 a0001c0014 a0004c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(37): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0041 a0001c0001t0073 a0001c0001t0074 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0090 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0097 a0001c0001t0102 a0001c0008t0088 a0001c0008t0089 a0001c0008t0096 a0001c0008t0104 a0001c0009t0105 a0001c0009t0106 a0001c0011t0006 a0001c0011t0010 a0001c0014t0002 a0004c0005t0023	a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(85): Show a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0004g0007 a0001c0001t0004g0109 a0001c0001t0004g0113 a0001c0001t0004g0121 a0001c0001t0004g0125 a0001c0001t0004g0141 a0001c0001t0004g0145 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0172 a0001c0001t0004g0245 a0001c0001t0006g0005 a0001c0001t0006g0118 a0001c0001t0006g0120 a0001c0001t0006g0126 a0001c0001t0006g0133 a0001c0001t0006g0157 a0001c0001t0006g0177 a0001c0001t0006g0247 a0001c0001t0010g0107 a0001c0001t0010g0151 a0001c0001t0010g0250 a0001c0001t0013g0144 a0001c0001t0013g0152 a0001c0001t0013g0249 a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0176 a0001c0001t0015g0108 a0001c0001t0015g0137 a0001c0001t0015g0143 a0001c0001t0025g0155 a0001c0001t0025g0158 a0001c0001t0026g0184 a0001c0001t0026g0186 a0001c0001t0027g0185 a0001c0001t0027g0187 a0001c0001t0028g0148 a0001c0001t0028g0150 a0001c0001t0041g0024 a0001c0001t0073g0122 a0001c0001t0074g0130 a0001c0001t0077g0170 a0001c0001t0078g0116 a0001c0001t0079g0119 a0001c0001t0080g0199 a0001c0001t0081g0142 a0001c0001t0082g0153 a0001c0001t0083g0167 a0001c0001t0084g0188 a0001c0001t0085g0183 a0001c0001t0087g0134 a0001c0001t0090g0161 a0001c0001t0092g0004 a0001c0001t0093g0101 a0001c0001t0095g0221 a0001c0001t0097g0149 a0001c0001t0102g0162 a0001c0008t0088g0124 a0001c0008t0089g0140 a0001c0008t0096g0123 a0001c0008t0104g0104 a0001c0009t0105g0128 a0001c0009t0106g0127 a0001c0011t0006g0135 a0001c0011t0010g0136 a0001c0014t0002g0139 a0004c0005t0023g0234	88	250	0.3520	-42	c.294 others(61): Show c.2941-2282_2941-2241delGGATGATGGTCATGGTTATGAAGGTA CTGATGATGGTGGTGG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPIDR_chr8_47255938_47741306	47588026	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0120 a0004c0004t0002g0120	1	216	0.0046	-42	c.109 others(61): Show c.1098-7765_1098-7724delTATATATATATATATATATATATATA TATATATATATATATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK6_chr5_148198042_148220137	148212673	ATATATAT others(35): Show ATATATATTTTATATAAACTATATATTTATACAATATATAGTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp2 HG02965.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0099 a0002c0002t0001g0100	2	438	0.0046	-42	c.82- others(57): Show c.82-1204_82-1163delATATATAGTTTATATATTTTATATAAACTA TATATTTATACA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPON1_chr11_13957723_14273133	14160482	TATATATA others(35): Show TATATATATATATTTACATATATATATTTATATATATATTTAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0111 a0001c0011t0001g0111	1	224	0.0045	-42	c.825 others(61): Show c.825+24925_825+24966delATTTACATATATATATTTATATATAT ATTTACATATATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01517.hp1 HG02717.hp1 others(5): Show HG01433.hp1 HG01517.hp1 HG02717.hp1 HG02886.hp1 HG03688.hp1 HG06807.hp2 NA18977.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0043 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0043 a0001c0001t0069 a0001c0001t0081 a0001c0001t0090 a0001c0002t0124 a0002c0003t0026	a0001c0001t0003g0228 a0001c0001t0005g0194 a0001c0001t0043g0132 others(5): Show a0001c0001t0003g0228 a0001c0001t0005g0194 a0001c0001t0043g0132 a0001c0001t0069g0109 a0001c0001t0081g0108 a0001c0001t0090g0225 a0001c0002t0124g0196 a0002c0003t0026g0195	8	231	0.0346	-42	c.-28 others(63): Show c.-282+25681_-282+25722delATATATATATATATATATATATAT ATATATATATATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTLC2_chr14_77500997_77621637	77531434	TCTTCTTC others(35): Show TCTTCTTCTTCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0013	1	246	0.0041	-42	c.130 others(61): Show c.1304-9895_1304-9854delGGGGAGGAGGAGGAGGAGGAGGAGAA GGAGGAGAAGAAGAAG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13067044	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(203): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0014 a0004c0008 a0005c0011 a0006c0016 a0007c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0030 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0003t0005 a0001c0003t0006 a0001c0003t0010 a0001c0003t0011 a0001c0003t0012 a0001c0003t0028 a0001c0003t0029 a0001c0003t0032 a0001c0003t0041 a0001c0003t0049 a0001c0003t0058 a0001c0003t0060 a0001c0004t0001 a0001c0004t0003 a0001c0004t0009 a0001c0004t0014 a0001c0004t0016 a0001c0004t0017 a0001c0004t0024 a0001c0004t0040 a0001c0004t0042 a0001c0004t0065 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0005t0009 a0001c0005t0016 a0001c0005t0018 a0001c0005t0020 a0001c0005t0025 a0001c0005t0030 a0001c0005t0047 a0001c0005t0048 a0001c0009t0005 a0001c0014t0005 a0004c0008t0005 a0004c0008t0028 a0005c0011t0023 a0006c0016t0064 a0007c0017t0013	a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0096 others(203): Show a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0292 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0055 a0001c0001t0002g0067 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0076 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0142 a0001c0001t0003g0157 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0247 a0001c0001t0004g0251 a0001c0001t0004g0266 a0001c0001t0004g0273 a0001c0001t0004g0288 a0001c0001t0004g0291 a0001c0001t0005g0092 a0001c0001t0005g0128 a0001c0001t0007g0216 a0001c0001t0007g0221 a0001c0001t0007g0228 a0001c0001t0007g0230 a0001c0001t0007g0252 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0008g0005 a0001c0001t0008g0013 a0001c0001t0009g0111 a0001c0001t0009g0148 a0001c0001t0010g0215 a0001c0001t0010g0220 a0001c0001t0012g0259 a0001c0001t0013g0058 a0001c0001t0013g0059 a0001c0001t0013g0060 a0001c0001t0014g0074 a0001c0001t0014g0116 a0001c0001t0014g0120 a0001c0001t0014g0146 a0001c0001t0015g0218 a0001c0001t0015g0224 a0001c0001t0015g0256 a0001c0001t0015g0264 a0001c0001t0015g0265 a0001c0001t0016g0136 a0001c0001t0018g0090 a0001c0001t0018g0104 a0001c0001t0019g0053 a0001c0001t0019g0119 a0001c0001t0019g0160 a0001c0001t0020g0138 a0001c0001t0021g0064 a0001c0001t0022g0129 a0001c0001t0022g0130 a0001c0001t0027g0263 a0001c0001t0027g0268 a0001c0001t0030g0261 a0001c0001t0038g0189 a0001c0001t0039g0121 a0001c0001t0044g0073 a0001c0001t0045g0163 a0001c0001t0046g0071 a0001c0001t0050g0101 a0001c0001t0051g0075 a0001c0001t0053g0250 a0001c0001t0054g0286 a0001c0001t0055g0287 a0001c0001t0056g0253 a0001c0001t0057g0281 a0001c0001t0059g0290 a0001c0001t0061g0274 a0001c0001t0063g0232 a0001c0003t0005g0109 a0001c0003t0005g0122 a0001c0003t0005g0125 a0001c0003t0005g0132 a0001c0003t0005g0168 a0001c0003t0005g0183 a0001c0003t0006g0040 a0001c0003t0006g0048 a0001c0003t0010g0236 a0001c0003t0010g0271 a0001c0003t0010g0272 a0001c0003t0010g0277 a0001c0003t0010g0282 a0001c0003t0010g0289 a0001c0003t0011g0082 a0001c0003t0011g0152 a0001c0003t0011g0153 a0001c0003t0011g0154 a0001c0003t0011g0155 a0001c0003t0011g0162 a0001c0003t0012g0217 a0001c0003t0012g0223 a0001c0003t0012g0245 a0001c0003t0012g0258 a0001c0003t0012g0262 a0001c0003t0028g0249 a0001c0003t0029g0275 a0001c0003t0029g0283 a0001c0003t0032g0022 a0001c0003t0041g0107 a0001c0003t0049g0077 a0001c0003t0058g0257 a0001c0003t0060g0267 a0001c0004t0001g0169 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0003g0094 a0001c0004t0003g0174 a0001c0004t0003g0175 a0001c0004t0009g0139 a0001c0004t0009g0170 a0001c0004t0009g0185 a0001c0004t0009g0207 a0001c0004t0009g0208 a0001c0004t0014g0137 a0001c0004t0016g0091 a0001c0004t0017g0105 a0001c0004t0017g0201 a0001c0004t0017g0205 a0001c0004t0024g0178 a0001c0004t0024g0202 a0001c0004t0040g0206 a0001c0004t0042g0184 a0001c0004t0065g0284 a0001c0005t0001g0080 a0001c0005t0001g0089 a0001c0005t0003g0085 a0001c0005t0004g0227 a0001c0005t0004g0235 a0001c0005t0004g0244 a0001c0005t0005g0069 a0001c0005t0005g0081 a0001c0005t0009g0079 a0001c0005t0009g0151 a0001c0005t0016g0147 a0001c0005t0018g0084 a0001c0005t0020g0078 a0001c0005t0025g0088 a0001c0005t0025g0097 a0001c0005t0030g0285 a0001c0005t0047g0068 a0001c0005t0048g0164 a0001c0009t0005g0186 a0001c0009t0005g0204 a0001c0014t0005g0083 a0004c0008t0005g0140 a0004c0008t0028g0276 a0005c0011t0023g0166 a0006c0016t0064g0248 a0007c0017t0013g0049	206	292	0.7055	-42	c.304 others(59): Show c.304-5195_304-5154delATATATATATATATATATATATATATAT ATATATATATATAT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRGAP3_chr3_8975591_9254646	9253491	AAAAGGCT others(35): Show AAAAGGCTTCATCTGAAGGAAAAGTGGCCAGAATAGTTTTTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	228	0.0044	-42	c.-45 others(53): Show c.-4582_-4541delCCAAAAACTATTCTGGCCACTTTTCCTTCAGATG AAGCCTTT	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding		3846		chr3	TogoVar
SRP68_chr17_76033785_76077517	76062659	ATATAATA others(35): Show ATATAATATACATTATATAATATATAATATACATTATATATTG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	365	0.0027	-42	c.562 others(59): Show c.562-1127_562-1086delCAATATATAATGTATATTATATATTATA TAATGTATATTATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRRM4_chr12_118976541_119168051	119008426	TCTACTCT others(35): Show TCTACTCTTATCTAATGTTGTGTAACACCTAACCATGTTGGAG	T T	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19066.hp1 NA19084.hp1 NA19011.hp1 NA19066.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 a0001c0001t0001 a0001c0001t0002 a0002c0002t0005	a0001c0001t0001g0262 a0001c0001t0002g0261 a0002c0002t0005g0263 a0001c0001t0001g0262 a0001c0001t0002g0261 a0002c0002t0005g0263	3	328	0.0092	-42	c.131 others(61): Show c.131+26500_131+26541delACTCTTATCTAATGTTGTGTAACACC TAACCATGTTGGAGCT	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSBP3_chr1_54220432_54411394	54240057	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0007 a0001c0001t0012g0007	1	280	0.0036	-42	c.856 others(57): Show c.856+806_856+847delGCGCGCGCGCGCACACACACACACACACAC ACACACACACAC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17			chr1	TogoVar
SSC4D_chr7_76384337_76414697	76393228	TCGCCCCG others(35): Show TCGCCCCGCCGCGCAGCCGCAGAGCGGGCGCACGGCGGGGCGG	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19002.hp1 NA19070.hp2 NA18944.hp1 NA19002.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0122 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0122	3	388	0.0077	-42	c.133 others(59): Show c.1333+135_1333+176delCCGCCCCGCCGTGCGCCCGCTCTGCGGC TGCGCGGCGGGGCG	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	9/10			chr7	TogoVar
ST3GAL1_chr8_133449848_133576887	133576565	CAAAAAAA others(35): Show CAAAAAAACAAAAAACAAAAAAAAAAAACAAAAAAAAAAAACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 NA21309.hp2 HG02922.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0066 a0001c0003t0004 a0001c0003t0066	a0001c0003t0004g0174 a0001c0003t0066g0003 a0001c0003t0004g0174 a0001c0003t0066g0003	2	332	0.0060	-42	c.-54 others(53): Show c.-5496_-5455delTGTTTTTTTTTTTTGTTTTTTTTTTTTGTTTTTT GTTTTTTT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding		4679		chr8	TogoVar
ST8SIA6_chr10_17310421_17459595	17358652	TAAGGAGG others(35): Show TAAGGAGGAGGAGGAAAGAAGAAAGAAGAAGAGGAAGAGGAAA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02896.hp2 HG02897.hp1 HG01978.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118	3	296	0.0101	-42	c.377 others(57): Show c.377+820_377+861delTTTCCTCTTCCTCTTCTTCTTTCTTCTTTC CTCCTCCTCCTT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17358697	GGAGGAGG others(35): Show GGAGGAGGAGGAGGAAAGAAGAAAGAAGAAGAGGAAGAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00438.hp1 others(56): Show HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02300.hp1 HG02572.hp1 HG02615.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03492.hp1 HG03516.hp1 HG03704.hp1 HG03710.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18971.hp1 NA18972.hp2 NA18977.hp2 NA18990.hp1 NA18998.hp2 NA19005.hp2 NA19063.hp1 NA19078.hp1 NA19079.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0028 a0001c0001t0029 a0001c0001t0039 a0001c0003t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0019 a0003c0005t0004	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0119 others(56): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0119 a0001c0001t0001g0186 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0145 a0001c0001t0002g0152 a0001c0001t0002g0166 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0202 a0001c0001t0003g0053 a0001c0001t0003g0069 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0034 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0039 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0216 a0001c0001t0005g0221 a0001c0001t0005g0253 a0001c0001t0005g0255 a0001c0001t0006g0256 a0001c0001t0028g0029 a0001c0001t0029g0030 a0001c0001t0039g0295 a0001c0003t0003g0277 a0001c0003t0003g0278 a0001c0003t0003g0279 a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0002t0003g0007 a0002c0002t0007g0016 a0002c0002t0019g0009 a0003c0005t0004g0274	59	296	0.1993	-42	c.377 others(57): Show c.377+775_377+816delTTTCCTCTTCCTCTTCTTCTTTCTTCTTTC CTCCTCCTCCTC	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
STK11IP_chr2_219592857_219621451	219621020	GGTTAAAT others(35): Show GGTTAAATACAGGGAATCTCACCAAGGGGATACTAGATGTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	342	0.0029	-42	c.48 others(53): Show c.4828_*4869delGTTAAATACAGGGAATCTCACCAAGGGGATACTA GATGTCAA	STK11IP	ENSG00000144589.22	transcript	ENST00000456909.6	protein_coding		4570		chr2	TogoVar
STK32B_chr4_5046480_5505989	5159709	ATATATAT others(35): Show ATATATATGAATGTATATGAATATATATATGAATATATGAATG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	170	0.0059	-42	c.109 others(59): Show c.109-8584_109-8543delATGAATGTATATGAATATATATATGAAT ATATGAATGTATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5317339	ATACATAT others(35): Show ATACATATATATAATATATATAATGTATATGTATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02056.hp1 HG02300.hp2 others(1): Show HG00408.hp2 HG02056.hp1 HG02300.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0040 a0002c0002t0001g0059 others(1): Show a0002c0002t0001g0021 a0002c0002t0001g0040 a0002c0002t0001g0059 a0002c0002t0001g0086	4	170	0.0235	-42	c.261 others(61): Show c.261-13839_261-13798delTTACATATATATAATATATATAATGT ATATGTATTATATATA	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32C_chr10_132202492_132312950	132284814	GTCTGCCC others(35): Show GTCTGCCCAAAGACCAGGCATGAACCCAGAACACATTCCCACA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	368	0.0027	-42	c.262 others(61): Show c.262+22716_262+22757delTGTGGGAATGTGTTCTGGGTTCATGC CTGGTCTTTGGGCAGA	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK32C_chr10_132202492_132312950	132284987	CCCAAAGA others(35): Show CCCAAAGACCAGGCATGAACCCGGAACACATTCCCACGTCTGT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03491.hp1 HG03492.hp2 others(4): Show HG02132.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG04199.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0003c0007	a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 a0001c0010t0002 a0003c0007t0006	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0005g0102 others(4): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0005g0102 a0001c0002t0003g0097 a0001c0010t0002g0076 a0003c0007t0006g0359 a0003c0007t0006g0362	7	368	0.0190	-42	c.262 others(61): Show c.262+22543_262+22584delACAGACGTGGGAATGTGTTCCGGGTT CATGCCTGGTCTTTGG	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK32C_chr10_132202492_132312950	132285135	GGAACACA others(35): Show GGAACACATTCCCACGTCTGCCCAAAGACCAGGCATGAACCCA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0076 a0001c0010t0002g0076	1	368	0.0027	-42	c.262 others(61): Show c.262+22395_262+22436delTGGGTTCATGCCTGGTCTTTGGGCAG ACGTGGGAATGTGTTC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STON2_chr14_81255652_81405324	81308825	TGTGTGTG others(35): Show TGTGTGTGTGTGTATATATATATATATACACATACATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02717.hp1 NA19079.hp2 HG00423.hp1 HG02717.hp1 NA19079.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0046 a0003c0003t0001 a0003c0003t0003 a0003c0003t0046	a0003c0003t0001g0222 a0003c0003t0003g0218 a0003c0003t0046g0162 a0003c0003t0001g0222 a0003c0003t0003g0218 a0003c0003t0046g0162	3	264	0.0114	-42	c.742 others(61): Show c.742+15150_742+15191delGTATGTATGTATGTGTATATATATAT ATATACACACACACAC	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
STOX2_chr4_183900307_184028526	183932303	GTGTATAC others(35): Show GTGTATACATACAGTATATGTATGTATACATACAGTATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02040.hp1 HG02071.hp2 others(7): Show HG00408.hp2 HG02040.hp1 HG02071.hp2 HG02300.hp2 NA18747.hp1 NA18954.hp2 NA19007.hp2 NA19081.hp2 NA19084.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0074 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0074 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0008 a0001c0001t0001g0044 a0001c0001t0001g0087 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0044 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0289 a0001c0001t0006g0083 a0001c0001t0074g0208 a0001c0002t0002g0005 a0001c0002t0003g0202 a0001c0002t0003g0209	10	318	0.0315	-42	c.166 others(61): Show c.166+25500_166+25541delACATACAGTATATGTATGTATACATA CAGTATATGTATGTAT	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
STRADB_chr2_201446740_201485846	201481917	GAATTCTC others(35): Show GAATTCTCTTTTACTTGGGGGAAGTTTAGCCTTCCTCTTCTAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	386	0.0026	-42	c.17 others(53): Show c.1743_*1784delAATTCTCTTTTACTTGGGGGAAGTTTAGCCTTCC TCTTCTAT	STRADB	ENSG00000082146.13	transcript	ENST00000194530.8	protein_coding		1072		chr2	TogoVar
STRN_chr2_36832698_36971536	36845884	AACACACA others(35): Show AACACACACACACACACACACACGCATGCATGCACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0173 a0001c0001t0173	a0001c0001t0173g0028 a0001c0001t0173g0028	1	302	0.0033	-42	c.35 others(53): Show c.3530_*3571delGTGTGTGTGTGCATGCATGCGTGTGTGTGTGTGT GTGTGTGT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	18/18	3530		chr2	TogoVar
STYXL1_chr7_75991342_76053000	76046309	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	356	0.0028	-42	c.-5+ others(57): Show c.-5+1311_-5+1352delGCGCGCGCGCGCACACACACACACACACAC ACACACACACAC	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
SULF1_chr8_69487847_69665912	69617373	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG02451.hp2 others(7): Show HG00609.hp2 HG01069.hp1 HG02451.hp2 HG02572.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02965.hp1 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0023 a0001c0001t0025	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0084 others(7): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0084 a0001c0001t0002g0135 a0001c0001t0002g0188 a0001c0001t0004g0127 a0001c0001t0004g0144 a0001c0001t0016g0083 a0001c0001t0023g0282 a0001c0001t0025g0280	10	296	0.0338	-42	c.137 others(61): Show c.1378-3642_1378-3601delATATATATATATATATATATATATAT ATATATATATATATAT	SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
SULT1E1_chr4_69836212_69865145	69840983	TTGCAGTG others(35): Show TTGCAGTGAGCATGAGCAGAGATCACGCCACTGCACTGCAGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	446	0.0022	-42	c.96 others(52): Show c.969_*1010delGGCTGCAGTGCAGTGGCGTGATCTCTGCTCATGCT CACTGCA	SULT1E1	ENSG00000109193.12	transcript	ENST00000226444.4	protein_coding		228		chr4	TogoVar
SUPT3H_chr6_44821726_45382934	45212479	CTATGTGT others(35): Show CTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01192.hp1 others(37): Show HG00735.hp1 HG00741.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01884.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03654.hp2 HG03831.hp1 NA18522.hp1 NA18906.hp2 NA18981.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0002c0003t0003	a0001c0001t0001g0017 a0001c0001t0001g0080 a0001c0001t0001g0206 others(37): Show a0001c0001t0001g0017 a0001c0001t0001g0080 a0001c0001t0001g0206 a0001c0001t0001g0234 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0051 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0006g0018 a0001c0001t0010g0165 a0001c0001t0011g0160 a0001c0001t0011g0161 a0001c0001t0011g0162 a0001c0001t0012g0006 a0001c0001t0012g0046 a0002c0003t0003g0044 a0002c0003t0003g0048	40	262	0.1527	-42	c.102 others(63): Show c.102-106515_102-106474delCACACACACACACACACACACACA CACACACACACACACATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45288547	GTATATAT others(35): Show GTATATATATATATATATGTATATATATATATATATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp2 HG02965.hp1 others(9): Show HG00597.hp1 HG02056.hp2 HG02965.hp1 HG03491.hp1 NA18942.hp2 NA18963.hp1 NA18972.hp2 NA19001.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0198 others(9): Show a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0004t0001g0072	12	262	0.0458	-42	c.101 others(61): Show c.101+76612_101+76653delTATATACATATATATATATATATACA TATATATATATATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45288557	ATATATAT others(35): Show ATATATATGTATATATATATATATATGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00735.hp2 others(6): Show HG00099.hp1 HG00597.hp2 HG00735.hp2 HG02723.hp2 HG02922.hp1 HG03491.hp2 HG03492.hp1 NA18998.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0255 a0001c0001t0003g0020 a0001c0001t0003g0021 others(6): Show a0001c0001t0001g0255 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0002t0002g0110 a0001c0002t0002g0118 a0001c0002t0002g0142 a0001c0002t0002g0143	9	262	0.0344	-42	c.101 others(61): Show c.101+76602_101+76643delCACATATATATATATACATATATATA TATATATACATATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SVEP1_chr9_110360248_110584741	110386940	TTCTTTCA others(35): Show TTCTTTCATTTCTTTCCCTATCCCCAGTAGAATTCATGATACA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18522.hp2 HG02559.hp1 NA18522.hp2	a0075 a0094 a0075 a0094	a0075c0093 a0094c0081 a0075c0093 a0094c0081	a0075c0093t0004 a0094c0081t0004 a0075c0093t0004 a0094c0081t0004	a0075c0093t0004g0084 a0094c0081t0004g0123 a0075c0093t0004g0084 a0094c0081t0004g0123	2	362	0.0055	-42	c.100 others(61): Show c.10060+303_10060+344delTGTATCATGAATTCTACTGGGGATAG GGAAAGAAATGAAAGA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	42/47			chr9	TogoVar
SVOPL_chr7_138589285_138706362	138637439	TATAGATA others(35): Show TATAGATAGATAGATAGATATATATATATAGATATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03540.hp2 NA18965.hp1 others(1): Show HG03453.hp1 HG03540.hp2 NA18965.hp1 NA19083.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 others(1): Show a0001c0001 a0001c0002 a0003c0007 a0003c0011	a0001c0001t0001 a0001c0002t0001 a0003c0007t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0003c0007t0004 a0003c0011t0002	a0001c0001t0001g0079 a0001c0002t0001g0287 a0003c0007t0004g0297 others(1): Show a0001c0001t0001g0079 a0001c0002t0001g0287 a0003c0007t0004g0297 a0003c0011t0002g0007	4	360	0.0111	-42	c.789 others(59): Show c.789+7236_789+7277delCTATATCTATATCTATATATATATATCT ATCTATCTATCTAT	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	9/15			chr7	TogoVar
SYCE1L_chr16_77194408_77218215	77215109	ATTCTTTT others(35): Show ATTCTTTTTATTATTATTATTATTTTTATTTATTTATTTATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	442	0.0023	-42	c.21 others(53): Show c.2179_*2220delTTCTTTTTATTATTATTATTATTTTTATTTATTT ATTTATTT	SYCE1L	ENSG00000205078.6	transcript	ENST00000378644.5	protein_coding		1895		chr16	TogoVar
SYF2_chr1_25217276_25237502	25234322	TCTGCACT others(35): Show TCTGCACTAACAACTACTAGTTAGATACAGAAATGAAAAAGTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	300	0.0033	-42	c.-18 others(53): Show c.-1897_-1856delTACTTTTTCATTTCTGTATCTAACTAGTAGTTGT TAGTGCAG	SYF2	ENSG00000117614.10	transcript	ENST00000236273.9	protein_coding		1821		chr1	TogoVar
SYNPR_chr3_63273308_63621924	63313680	CATATATA others(35): Show CATATATATCCATATATATATATCCATATATATATATCCATAT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	246	0.0041	-42	c.84+ others(59): Show c.84+34973_84+35014delATCCATATATATATATCCATATATATAT ATCCATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63502723	GGTAGCTC others(35): Show GGTAGCTCCTTTCTTTTTAGCACTTAATAATATTCCATTGGAT	G G	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	246	0.0041	-42	c.209 others(61): Show c.209+21849_209+21890delGATGTAGCTCCTTTCTTTTTAGCACT TAATAATATTCCATTG	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63595717	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	246	0.0041	-42	c.409 others(61): Show c.409-13397_409-13356delTATATATATATATATATATATATATA TATATATATATATATA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63595744	TATATATA others(35): Show TATATATATATATATATATATATATAATTTTATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp1 HG02723.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0110 a0001c0001t0001g0044 a0001c0001t0001g0110	2	246	0.0081	-42	c.409 others(61): Show c.409-13380_409-13339delATATATATATATATATATATATATAA TTTTATATATATATAG	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5			chr3	TogoVar
SYNPR_chr3_63273308_63621924	63595791	ATATATAT others(35): Show ATATATATAGTTATATATATATATAGTTTTATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02615.hp1 HG02818.hp2 others(3): Show HG01952.hp1 HG02615.hp1 HG02818.hp2 HG02965.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0003g0025 a0001c0001t0003g0036 a0001c0001t0004g0225 others(3): Show a0001c0001t0003g0025 a0001c0001t0003g0036 a0001c0001t0004g0225 a0001c0001t0005g0020 a0001c0001t0005g0026 a0001c0001t0005g0220	6	246	0.0244	-42	c.409 others(61): Show c.409-13325_409-13284delGTTATATATATATATAGTTTTATATA TATATAGTTATATATA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT10_chr12_33369238_33444819	33440189	TATTCTAC others(35): Show TATTCTACTTTCTGTGCTATCTGCTTCTGCCCTTCTGGAAAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0169 a0001c0001t0024g0169	1	320	0.0031	-42	c.-70 others(51): Show c.-709_-668delCTTTTCCAGAAGGGCAGAAGCAGATAGCACAGAAAG TAGAAT	SYT10	ENSG00000110975.8	transcript	ENST00000228567.7	protein_coding		371		chr12	TogoVar
SYT9_chr11_7246904_7474043	7432568	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATACATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03710.hp1 HG02735.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0125 a0001c0001t0002g0074 a0001c0001t0002g0125	2	272	0.0074	-42	c.146 others(63): Show c.1467+11935_1467+11976delAAAAAAAAAAAAAATATATATACA TATATATATATATATATA	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr11	TogoVar

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