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

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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
SLC9A8_chr20_49807828_49897242	49834407	ATATATAT others(55): Show ATATATATATACTGTATATATATACTGTATATATATATATATACTGTATA TATATATACTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00621.hp1 others(39): Show HG00099.hp1 HG00280.hp2 HG00621.hp1 HG00642.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG02040.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02683.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 NA18522.hp1 NA18954.hp2 NA18957.hp1 NA18966.hp1 NA18969.hp2 NA18978.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0035 a0001c0008t0003	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(39): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0155 a0001c0001t0003g0047 a0001c0001t0003g0055 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0124 a0001c0001t0003g0128 a0001c0001t0005g0100 a0001c0001t0009g0105 a0001c0001t0035g0098 a0001c0008t0003g0094	42	360	0.1167	-62	c.290 others(79): Show c.290-5123_290-5062delCTGTATATATATACTGTATATATATATA TATACTGTATATATATATACTGTGTATATATATA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMOC2_chr6_168436184_168672992	168458252	CGGGGGCA others(55): Show CGGGGGCATCGTGCTGCCTGCCCTGGGGGTCCTGGGAGGGAGACGGTCTC ACCCTGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	180	0.0056	-62	c.84+ others(79): Show c.84+16870_84+16931delGTGCTGCCTGCCCTGGGGGTCCTGGGAG GGAGACGGTCTCACCCTGCCCCTCTGGGGGCATC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168458324	GTGCTGCC others(55): Show GTGCTGCCTGCCCTGGGGGTCCTGGGAGGGAGACGGTCTCACCCTGCCCC TCTGGGGGCATCA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0179	3	180	0.0167	-62	c.84+ others(79): Show c.84+16896_84+16957delAGGGAGACGGTCTCACCCTGCCCCTCTG GGGGCATCATGCTGCCTGCCCTGGGGGTCCTGGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168571802	TCTCCCCG others(55): Show TCTCCCCGCATCCCTGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACG CGATGTTCATTTC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 homoSapiens_chm13v2.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0171 a0001c0001t0003g0087 a0001c0001t0003g0171	2	180	0.0111	-62	c.637 others(81): Show c.637+22613_637+22674delTGGGTGCTGGGACCAGGGCTGCGTGC TCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168572333	TGTGCTCC others(55): Show TGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCCG GGACCAGGGCTGC	T T	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19068.hp1 NA18990.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0094 a0001c0001t0001g0073 a0001c0001t0001g0094	2	180	0.0111	-62	c.637 others(81): Show c.637+23178_637+23239delCGGGACCAGGGCTGCGTGCTCCCTGA ACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168573049	GCATCCCC others(55): Show GCATCCCCGGGTGCGGGGACCAGGGCTGCGTGCTCCTTGGACGCGATGCT CATTTCCTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(31): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp2 HG02056.hp1 HG02109.hp2 HG02293.hp1 HG02602.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG04184.hp1 HG06807.hp2 NA18906.hp2 NA18943.hp1 NA18971.hp1 NA18973.hp1 NA19030.hp2 NA19065.hp1 NA19080.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0003t0004 a0001c0004t0005 a0001c0005t0001 a0001c0011t0006 a0003c0006t0012	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 others(31): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0132 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0003g0086 a0001c0001t0006g0160 a0001c0002t0002g0001 a0001c0002t0002g0022 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0061 a0001c0003t0004g0100 a0001c0003t0004g0101 a0001c0003t0004g0102 a0001c0004t0005g0048 a0001c0005t0001g0126 a0001c0011t0006g0167 a0003c0006t0012g0018	34	180	0.1889	-62	c.637 others(81): Show c.637+23860_637+23921delGGGGACCAGGGCTGCGTGCTCCTTGG ACGCGATGCTCATTTCCTTCCCACATCCCCGGGTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168573081	CTCCTTGG others(55): Show CTCCTTGGACGCGATGCTCATTTCCTTCCCACATCCCCGGGTGCTGGGAC CAGGGCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03490.hp2 HG03492.hp2 others(1): Show HG02559.hp2 HG03490.hp2 HG03492.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0005 a0001c0001t0001 a0001c0001t0003 a0001c0004t0005	a0001c0001t0001g0170 a0001c0001t0003g0106 a0001c0001t0003g0107 others(1): Show a0001c0001t0001g0170 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0004t0005g0049	4	180	0.0222	-62	c.637 others(81): Show c.637+23882_637+23943delTTGGACGCGATGCTCATTTCCTTCCC ACATCCCCGGGTGCTGGGACCAGGGCTGCGTGGTCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246200546	GTAATAGA others(55): Show GTAATAGAGAAGATAGAGGAGAACAGCGTAGACGCTGAGGTAGAATGTAC ACAGACGTCACTA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01243.hp1 others(27): Show HG00733.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 others(5): Show a0001c0001 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0017	a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 others(10): Show a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001	a0001c0001t0001g0018 a0001c0006t0001g0076 a0002c0003t0001g0096 others(27): Show a0001c0001t0001g0018 a0001c0006t0001g0076 a0002c0003t0001g0096 a0002c0003t0001g0111 a0002c0003t0001g0137 a0002c0003t0001g0141 a0002c0003t0002g0095 a0002c0003t0002g0114 a0002c0003t0002g0116 a0002c0003t0002g0130 a0002c0003t0002g0145 a0002c0003t0002g0147 a0002c0003t0002g0150 a0002c0004t0001g0113 a0002c0004t0001g0119 a0002c0004t0001g0129 a0002c0004t0001g0140 a0002c0004t0001g0149 a0002c0004t0002g0139 a0002c0005t0001g0142 a0002c0005t0002g0106 a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0017t0001g0122	30	150	0.2000	-62	c.531 others(83): Show c.531+126593_531+126654delTAGTGACGTCTGTGTACATTCTAC CTCAGCGTCTACGCTGTTCTCCTCTATCTTCTCTATTA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251399	AGCTTTAG others(55): Show AGCTTTAGTAGGTGCCTCAGACACTGTGCCCGGCTTTAGTAGGTGCCTCG GACACTGTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp1 HG00738.hp1 others(15): Show HG00423.hp1 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01109.hp2 HG01496.hp2 HG01934.hp1 HG02280.hp2 HG02965.hp2 HG03831.hp1 HG04115.hp2 NA18962.hp1 NA18963.hp1 NA19000.hp1 NA19057.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0004c0013t0002	a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0090 others(15): Show a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0090 a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0092 a0001c0002t0001g0015 a0001c0002t0001g0053 a0001c0002t0001g0079 a0001c0002t0002g0010 a0001c0002t0002g0083 a0001c0006t0001g0035 a0002c0003t0001g0099 a0002c0003t0002g0131 a0002c0004t0001g0098 a0002c0004t0001g0121 a0002c0005t0001g0138 a0004c0013t0002g0072	18	150	0.1200	-62	c.531 others(81): Show c.531+75740_531+75801delCGGGCACAGTGTCCGAGGCACCTACT AAAGCCGGGCACAGTGTCTGAGGCACCTACTAAAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251518	CGCCCGGC others(55): Show CGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTG CCGCGGACACTGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01975.hp2 HG02071.hp2 others(4): Show HG00738.hp2 HG01975.hp2 HG02071.hp2 HG02132.hp1 HG03491.hp1 NA18965.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0002g0039 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0002g0039 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0081 a0001c0002t0001g0016	7	150	0.0467	-62	c.531 others(81): Show c.531+75621_531+75682delACAGTGTCCGCGGCACCTACTAAAGC CGGGCACAGTGTCCGCGGCACCTACTAAAGCCGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251812	GGTGCCGC others(55): Show GGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGC CCGGCTTTAGTAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01975.hp2 NA18965.hp1 HG00738.hp2 HG01975.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0046 a0001c0001t0002g0071 a0001c0002t0001g0016 a0001c0001t0001g0046 a0001c0001t0002g0071 a0001c0002t0001g0016	3	150	0.0200	-62	c.531 others(81): Show c.531+75327_531+75388delGTACTAAAGCCGGGCACAGTGTCCGA GGCACCTACTAAAGCCGGGCACAGTGTCCGCGGCAC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251818	GCGGACAC others(55): Show GCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCT TTAGTACGTGCCT	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	150	0.0067	-62	c.531 others(81): Show c.531+75321_531+75382delAGGCACGTACTAAAGCCGGGCACAGT GTCCGAGGCACCTACTAAAGCCGGGCACAGTGTCCG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246252097	TCGGACAC others(55): Show TCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCT TTAGTAGGTGCCG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19000.hp2 HG00408.hp2 NA19000.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0002 a0005c0015t0002 a0001c0001t0002 a0005c0015t0002	a0001c0001t0002g0068 a0005c0015t0002g0094 a0001c0001t0002g0068 a0005c0015t0002g0094	2	150	0.0133	-62	c.531 others(81): Show c.531+75042_531+75103delCGGCACCTACTAAAGCCGGGCACAGT GTCCGAGGCACCTACTAAAGCCGGGCACAGTGTCCG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246387888	CTCCTTGT others(55): Show CTCCTTGTAGAAAGCATTCATTCTGGAAAATCACCTCGAGGTTGAAGTCA GTTTCTGGGGACA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00738.hp2 others(15): Show HG00140.hp1 HG00597.hp1 HG00738.hp2 HG01496.hp1 HG01934.hp2 HG01975.hp1 HG02027.hp2 HG02109.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG02895.hp2 HG03017.hp2 HG03209.hp1 HG03471.hp2 HG04228.hp2 NA18963.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0046 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0002t0001g0009 a0001c0002t0001g0029 a0001c0002t0001g0041 a0001c0002t0001g0065 a0001c0002t0002g0088 a0002c0003t0001g0103 a0002c0003t0001g0144 a0002c0005t0001g0146 a0002c0005t0002g0115	18	150	0.1200	-62	c.165 others(81): Show c.165-32856_165-32795delTGTCCCCAGAAACTGACTTCAACCTC GAGGTGATTTTCCAGAATGAATGCTTTCTACAAGGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246389629	AGGACCTC others(55): Show AGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCAAGGTTGA AGTCAGTTTCTGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	150	0.0067	-62	c.165 others(81): Show c.165-34597_165-34536delCCAGAAACTGACTTCAACCTTGAGGT GATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246462177	CGCCTGCT others(55): Show CGCCTGCTGGGTACAGTGCATCCTCCCGCGGGGCCTGCTGGGTACAGTGC ATCCTCCCGCGGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00621.hp2 others(8): Show HG00408.hp2 HG00423.hp1 HG00621.hp2 HG01433.hp2 HG02056.hp1 HG02300.hp2 HG02647.hp1 HG02965.hp2 HG03017.hp1 HG03471.hp2 HG04228.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0002c0003 others(3): Show a0001c0001 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0005c0015	a0001c0001t0002 a0001c0006t0001 a0002c0003t0001 others(4): Show a0001c0001t0002 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0002 a0005c0015t0002	a0001c0001t0002g0014 a0001c0001t0002g0080 a0001c0006t0001g0025 others(8): Show a0001c0001t0002g0014 a0001c0001t0002g0080 a0001c0006t0001g0025 a0001c0006t0001g0035 a0002c0003t0001g0100 a0002c0003t0001g0109 a0002c0003t0002g0104 a0002c0003t0002g0131 a0002c0004t0001g0107 a0002c0005t0002g0115 a0005c0015t0002g0094	11	150	0.0733	-62	c.164 others(81): Show c.164+44815_164+44876delCCCGCGGGAGGATGCACTGTACCCAG CAGGCCCCGCGGGAGGATGCACTGTACCCAGCAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246462233	CCGCGGGG others(55): Show CCGCGGGGCCTGCTGGGTACAGTGCATCCTCCCGCGGGGCCTGCTGGGTA CAGTGCATCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp1 others(40): Show HG00140.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02132.hp2 HG02145.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG03831.hp1 NA18962.hp1 NA18963.hp1 NA18971.hp1 NA18984.hp1 NA19000.hp1 NA19030.hp2 NA19057.hp1 NA19088.hp1 NA19090.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0012 a0002c0003 a0002c0004 a0002c0007 a0002c0008 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0003 a0001c0011t0002 a0001c0012t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0007t0004 a0002c0008t0001 a0004c0013t0002	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 others(40): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0041 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0002g0037 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0088 a0001c0006t0003g0001 a0001c0011t0002g0049 a0001c0012t0002g0074 a0002c0003t0001g0133 a0002c0003t0002g0130 a0002c0004t0001g0121 a0002c0004t0001g0126 a0002c0007t0004g0134 a0002c0008t0001g0135 a0004c0013t0002g0072	43	150	0.2867	-62	c.164 others(81): Show c.164+44759_164+44820delAGAGGATGCACTGTACCCAGCAGGCC CCGCGGGAGGATGCACTGTACCCAGCAGGCCCCGCG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246462252	CAGTGCAT others(55): Show CAGTGCATCCTCCCGCGGGGCCTGCTGGGTACAGTGCATCCTCTCGCGGG GCCTGCTGGGTAT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	150	0.0067	-62	c.164 others(81): Show c.164+44740_164+44801delATACCCAGCAGGCCCCGCGAGAGGAT GCACTGTACCCAGCAGGCCCCGCGGGAGGATGCACT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNX16_chr8_81794583_81847185	81842522	GAGAAAGA others(55): Show GAGAAAGAGAAAGAAAACGAGCGAGGGAGAGAGCGAGAGCGAGAGAGAGA GAGAGAGAGCGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA18950.hp1 HG03486.hp1 NA18950.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0004 a0001c0001t0002 a0003c0004t0004	a0001c0001t0002g0002 a0003c0004t0004g0115 a0001c0001t0002g0002 a0003c0004t0004g0115	2	306	0.0065	-62	c.-55 others(71): Show c.-559_-498delGACGCTCTCTCTCTCTCTCTCTCGCTCTCGCTCTCT CCCTCGCTCGTTTTCTTTCTCTTTCT	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		338		chr8	TogoVar
SNX27_chr1_151607050_151704080	151641918	CTATAGAT others(55): Show CTATAGATATATATGAGATATATATATCAGCTATAGATATATATGAGATA TATATATATCAGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0181 a0001c0001t0016g0181	1	366	0.0027	-62	c.543 others(79): Show c.543+2829_543+2890delCTATAGATATATATGAGATATATATATA TCAGATATAGATATATATGAGATATATATATCAG	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOGA1_chr20_36772447_36868538	36858331	CACACACA others(55): Show CACACACACACACACACACACTGGCTGCACTTCACTCACATCTAGAATCA CCAAGGAGGGAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG01978.hp2 others(1): Show HG00323.hp1 HG00735.hp1 HG01978.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0014 a0001c0002t0008 a0001c0001t0003 a0001c0001t0014 a0001c0002t0008	a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0014g0136 others(1): Show a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0014g0136 a0001c0002t0008g0231	4	282	0.0142	-62	c.687 others(79): Show c.687+4265_687+4326delTTTCCCTCCTTGGTGATTCTAGATGTGA GTGAAGTGCAGCCAGTGTGTGTGTGTGTGTGTGT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SOHLH2_chr13_36163217_36219556	36164877	ATGCTAAT others(55): Show ATGCTAATATACACATAGCTATAGGAAAGATTTTCTACTTTTCAATAGTT TCCAGTTCAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	420	0.0024	-62	c.40 others(73): Show c.4095_*4156delATTTTGAACTGGAAACTATTGAAAAGTAGAAAAT CTTTCCTATAGCTATGTGTATATTAGCA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding		3339		chr13	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(55): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0005 a0001c0045t0005	a0001c0045t0005g0153 a0001c0045t0005g0153	1	364	0.0028	-62	c.11 others(73): Show c.1181_*1242delACACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SPAG16_chr2_213279464_214415501	214346219	CGTGTTGT others(55): Show CGTGTTGTAGCATTTTATTATAGTTTAAATGTTCATTTGTAAATTCTAAC CCTTCCAGGGAGT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	86	0.0116	-62	c.172 others(83): Show c.1721-63883_1721-63822delGTAAATTCTAACCCTTCCAGGGAG TGTGTTGTAGCATTTTATTATAGTTTAAATGTTCATTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPOCD1_chr1_31785422_31821022	31803349	ATATATAG others(55): Show ATATATAGATTTAATAGCATATTAGATGCAGCTGAAACAAATTAGCTAAC TGGACAACACATT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18972.hp1 NA19060.hp1 HG00544.hp1 NA18972.hp1 NA19060.hp1	a0020 a0021 a0023 a0020 a0021 a0023	a0020c0026 a0021c0025 a0023c0027 a0020c0026 a0021c0025 a0023c0027	a0020c0026t0001 a0021c0025t0001 a0023c0027t0002 a0020c0026t0001 a0021c0025t0001 a0023c0027t0002	a0020c0026t0001g0252 a0021c0025t0001g0253 a0023c0027t0002g0254 a0020c0026t0001g0252 a0021c0025t0001g0253 a0023c0027t0002g0254	3	260	0.0115	-62	c.138 others(81): Show c.1384-1706_1384-1645delAATGTGTTGTCCAGTTAGCTAATTTG TTTCAGCTGCATCTAATATGCTATTAAATCTATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPPL2B_chr19_2323684_2360095	2335273	CTTTCCCA others(55): Show CTTTCCCACTGCATCCTTCAGGCCCCGCCTCCTTTCCCACTGCATCCTTC AGGCCCCGCCTCA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(71): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01928.hp2 HG01934.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02165.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG03490.hp1 HG03704.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA21309.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0002 a0001c0004 a0001c0022 others(4): Show a0001c0002 a0001c0004 a0001c0022 a0001c0023 a0002c0007 a0006c0024 a0007c0013	a0001c0002t0001 a0001c0002t0010 a0001c0002t0014 others(8): Show a0001c0002t0001 a0001c0002t0010 a0001c0002t0014 a0001c0002t0016 a0001c0004t0010 a0001c0004t0014 a0001c0022t0001 a0001c0023t0001 a0002c0007t0003 a0006c0024t0002 a0007c0013t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 others(51): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0116 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0141 a0001c0002t0010g0002 a0001c0002t0010g0059 a0001c0002t0014g0002 a0001c0002t0014g0005 a0001c0002t0016g0023 a0001c0004t0010g0280 a0001c0004t0014g0221 a0001c0022t0001g0064 a0001c0023t0001g0013 a0002c0007t0003g0171 a0006c0024t0002g0060 a0007c0013t0001g0131 a0007c0013t0001g0132 a0007c0013t0001g0133	74	414	0.1787	-62	c.186 others(77): Show c.186+588_186+649delCCACTGCATCCTTCAGGCCCCGCCTCATTT CCCACTGCATCCTTCAGGCCCCGCCTCCTTTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2335334	CATTTCCC others(55): Show CATTTCCCACTGCATCCTTCAGGCCCCGCCTCCTTTCTCACTGCATCCTT CAGGCCCCGCCTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp2 HG00738.hp1 others(25): Show HG00544.hp2 HG00733.hp2 HG00738.hp1 HG01074.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01981.hp2 HG02055.hp1 HG02602.hp1 HG02735.hp2 HG03704.hp1 HG04115.hp2 HG06807.hp1 NA18954.hp1 NA18968.hp1 NA18973.hp1 NA18989.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0015t0028 a0001c0001t0002 a0001c0015t0028	a0001c0001t0002g0019 a0001c0001t0002g0044 a0001c0001t0002g0045 others(20): Show a0001c0001t0002g0019 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0015t0028g0019	28	414	0.0676	-62	c.186 others(77): Show c.186+614_186+675delATTTCCCACTGCATCCTTCAGGCCCCGCCT CCTTTCTCACTGCATCCTTCAGGCCCCGCCTT	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	2/14			chr19	TogoVar
SRGAP2_chr1_206198541_206469436	206372902	TCTTTCTT others(55): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01109.hp2 HG01192.hp2 others(21): Show HG00423.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01943.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp2 HG02717.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03579.hp1 HG03710.hp1 NA18947.hp2 NA18975.hp2 NA19009.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0002c0009	a0001c0002t0002 a0001c0002t0004 a0001c0002t0014 others(5): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0014 a0001c0002t0015 a0001c0002t0020 a0001c0004t0003 a0001c0005t0001 a0002c0009t0013	a0001c0002t0002g0005 a0001c0002t0002g0031 a0001c0002t0002g0035 others(21): Show a0001c0002t0002g0005 a0001c0002t0002g0031 a0001c0002t0002g0035 a0001c0002t0002g0063 a0001c0002t0002g0071 a0001c0002t0004g0070 a0001c0002t0014g0134 a0001c0002t0015g0075 a0001c0002t0020g0008 a0001c0004t0003g0034 a0001c0004t0003g0043 a0001c0004t0003g0048 a0001c0004t0003g0055 a0001c0004t0003g0057 a0001c0004t0003g0058 a0001c0004t0003g0111 a0001c0004t0003g0113 a0001c0004t0003g0114 a0001c0004t0003g0137 a0001c0005t0001g0116 a0001c0005t0001g0117 a0001c0005t0001g0119 a0001c0005t0001g0141 a0002c0009t0013g0018	24	182	0.1319	-62	c.424 others(81): Show c.424-11055_424-10994delTCTTTCCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK2_chr7_105111374_105393921	105179751	GGAGGCAG others(55): Show GGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTG GGCAACACAGTAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02055.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0017 a0001c0001t0001g0023	2	282	0.0071	-62	c.230 others(81): Show c.230-10548_230-10487delTTACTGTGTTGCCCAGGCTGGAGTGC AATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SSH2_chr17_29620938_29935228	29896350	CACATTTC others(55): Show CACATTTCATGTATAAAATGTATTTTATATACACATTTCATGTATAAAAT GTATTTTATATAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0083 a0001c0001t0013g0083	1	232	0.0043	-62	c.63+ others(79): Show c.63+33526_63+33587delATATATAAAATACATTTTATACATGAAA TGTGTATATAAAATACATTTTATACATGAAATGT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277555	TATATATA others(55): Show TATATATATATATACACACACACATATGTTTATGTGTATATATATATATA TATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02970.hp2 HG01074.hp1 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0010 a0001c0003t0006 a0001c0003t0010	a0001c0003t0006g0044 a0001c0003t0010g0086 a0001c0003t0006g0044 a0001c0003t0010g0086	2	102	0.0196	-62	c.19- others(79): Show c.19-36248_19-36187delTATATATATATACACACACACATATGTT TATGTGTATATATATATATATATATATACACACA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAP1_chr4_67553727_67612337	67608102	TGACACAT others(55): Show TGACACATTGTAGTTGAATGCAATAAATGGAAAAGTAACCGACAAGAGAA ACAGAAATCAAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0181	1	382	0.0026	-62	c.17 others(73): Show c.1746_*1807delGACACATTGTAGTTGAATGCAATAAATGGAAAAG TAACCGACAAGAGAAACAGAAATCAAAG	STAP1	ENSG00000035720.8	transcript	ENST00000265404.7	protein_coding		766		chr4	TogoVar
STARD13_chr13_33098137_33290755	33177780	GAAGGAAG others(55): Show GAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG02109.hp1 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0002 a0001c0002t0002 a0001c0008t0002	a0001c0002t0002g0263 a0001c0008t0002g0159 a0001c0002t0002g0263 a0001c0008t0002g0159	2	302	0.0066	-62	c.170 others(81): Show c.170-10220_170-10159delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STIM1_chr11_3850664_4098208	3895626	CTTTCTTT others(55): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18952.hp2 NA18966.hp1 NA18612.hp1 NA18952.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0014 a0001c0002t0002 a0001c0001t0002 a0001c0001t0014 a0001c0002t0002	a0001c0001t0002g0092 a0001c0001t0014g0280 a0001c0002t0002g0053 a0001c0001t0002g0092 a0001c0001t0014g0280 a0001c0002t0002g0053	3	300	0.0100	-62	c.139 others(81): Show c.139+39219_139+39280delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCTTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895737	TTTCTTTC others(55): Show TTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19043.hp1 NA19085.hp1 NA18949.hp2 NA19043.hp1 NA19085.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0004 a0007c0013 a0001c0002 a0002c0004 a0007c0013	a0001c0002t0001 a0002c0004t0003 a0007c0013t0025 a0001c0002t0001 a0002c0004t0003 a0007c0013t0025	a0001c0002t0001g0108 a0002c0004t0003g0100 a0007c0013t0025g0267 a0001c0002t0001g0108 a0002c0004t0003g0100 a0007c0013t0025g0267	3	300	0.0100	-62	c.139 others(81): Show c.139+39329_139+39390delTTCTTTCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12			chr11	TogoVar
STK10_chr5_172037079_172193224	172189807	GAGAGAGA others(55): Show GAGAGAGAAAGGAAAGAGAGAAAGAGAGAAAGAAAGAAAGAGAAAGGGAA AGGAAAGGAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01106.hp1 others(32): Show HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02148.hp2 HG02257.hp2 HG02572.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 NA18906.hp2 NA18952.hp1 NA19003.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0029 a0001c0030 a0002c0013 a0004c0018	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0016 a0001c0002t0039 a0001c0003t0001 a0001c0003t0011 a0001c0005t0001 a0001c0006t0004 a0001c0007t0001 a0001c0007t0014 a0001c0008t0009 a0001c0009t0001 a0001c0009t0033 a0001c0010t0007 a0001c0029t0003 a0001c0030t0001 a0002c0013t0036 a0004c0018t0041	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0038 others(32): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0005g0035 a0001c0001t0006g0037 a0001c0001t0015g0048 a0001c0002t0001g0189 a0001c0002t0002g0058 a0001c0002t0003g0030 a0001c0002t0005g0045 a0001c0002t0005g0046 a0001c0002t0010g0043 a0001c0002t0016g0042 a0001c0002t0039g0028 a0001c0003t0001g0033 a0001c0003t0011g0055 a0001c0005t0001g0027 a0001c0005t0001g0034 a0001c0005t0001g0047 a0001c0006t0004g0054 a0001c0007t0001g0040 a0001c0007t0001g0041 a0001c0007t0014g0039 a0001c0008t0009g0057 a0001c0009t0001g0032 a0001c0009t0001g0036 a0001c0009t0033g0052 a0001c0010t0007g0050 a0001c0029t0003g0053 a0001c0030t0001g0056 a0002c0013t0036g0051 a0004c0018t0041g0044	35	232	0.1509	-62	c.-18 others(73): Show c.-1827_-1766delTTCTTCCTTTCCTTTCCCTTTCTCTTTCTTTCTT TCTCTCTTTCTCTCTTTCCTTTCTCTCT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding		1584		chr5	TogoVar
STK26_chrX_132018302_132080943	132044704	GAGAGATC others(55): Show GAGAGATCTATATATATATTTATATATATATAGAGAGATCTATATATATA TTTATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG02818.hp2 others(1): Show HG01891.hp2 HG02622.hp1 HG02818.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 others(1): Show a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0181	4	244	0.0164	-62	c.43- others(77): Show c.43-9921_43-9860delTCTATATATATATTTATATATATATAGAGA GATCTATATATATATTTATATATATATAGAGA	STK26	ENSG00000134602.16	transcript	ENST00000394334.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
STK26_chrX_132018302_132080943	132044725	ATATATAT others(55): Show ATATATATATAGAGAGATCTATATATATATTTATATATATATAGAGAGAT CTATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01515.hp1 HG01517.hp2 others(4): Show HG00280.hp1 HG01515.hp1 HG01517.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0190 others(1): Show a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0190 a0001c0001t0003g0191	7	244	0.0287	-62	c.43- others(77): Show c.43-9889_43-9828delTCTATATATATATTTATATATATATAGAGA GATCTATATATATATTTATATATATAGAGAGA	STK26	ENSG00000134602.16	transcript	ENST00000394334.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
STK26_chrX_132018302_132080943	132044757	ATATATAT others(55): Show ATATATATATAGAGAGATCTATATATATATTTATATATATAGAGAGAGAT CTATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	244	0.0041	-62	c.43- others(77): Show c.43-9857_43-9796delTCTATATATATATTTATATATATAGAGAGA GATCTATATATATATTTATATATATAGAGAGA	STK26	ENSG00000134602.16	transcript	ENST00000394334.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
STK32B_chr4_5046480_5505989	5064488	GTTATATA others(55): Show GTTATATACATATATAATATATAAATATATACTTATATACATATATAATA TATAAATATATAC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01496.hp1 HG01515.hp2 others(2): Show HG01257.hp1 HG01496.hp1 HG01515.hp2 HG03130.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0001c0001t0001 a0001c0003t0001 a0002c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0003t0001g0022 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0003t0001g0022 a0001c0003t0001g0138 a0002c0002t0002g0064	5	170	0.0294	-62	c.52+ others(79): Show c.52+12826_52+12887delATACATATATAATATATAAATATATACT TATATACATATATAATATATAAATATATACTTAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK38L_chr12_27239286_27330959	27241274	ACTCTGTA others(55): Show ACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATAT TACATATATGACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02615.hp1 HG02896.hp2 others(5): Show HG02055.hp2 HG02615.hp1 HG02896.hp2 HG03139.hp1 NA18951.hp1 NA18952.hp2 NA19064.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0294 others(5): Show a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0294 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0313 a0001c0002t0001g0312	8	374	0.0214	-62	c.-30 others(73): Show c.-3069_-3008delCTCTGTATAGTTATATATATTACATATATGACTC TGTATAGTTATATATTACATATATGACT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3011		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241305	ACTCTGTA others(55): Show ACTCTGTATAGTTATATATTACATATATGACTCTGTATAGTTATATATAT TACATATATGACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG06807.hp1 NA20129.hp2 HG01192.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0005g0011 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0005g0011	3	374	0.0080	-62	c.-30 others(73): Show c.-3038_-2977delCTCTGTATAGTTATATATTACATATATGACTCTG TATAGTTATATATATTACATATATGACT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2980		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241523	CTGTATAG others(55): Show CTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATTAC ATATATGACTCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	374	0.0027	-62	c.-28 others(73): Show c.-2820_-2759delTGTATAGTTATATATATTACATATATGACTCTGT ATAGTTATATATTACATATATGACTCTG	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2762		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241531	TTATATAT others(55): Show TTATATATATTACATATATGACTCTGTATAGTTATATATTACATATATGA CTCTGTATAGTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01978.hp1 NA19085.hp2 HG01192.hp1 HG01978.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0002g0230 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0002g0230	3	374	0.0080	-62	c.-28 others(73): Show c.-2812_-2751delTATATATATTACATATATGACTCTGTATAGTTAT ATATTACATATATGACTCTGTATAGTTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2754		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241562	TTATATAT others(55): Show TTATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGA CTCTGTATAGTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG04228.hp1 NA18965.hp1 HG02074.hp1 HG04228.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0002g0177 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0002g0177	3	374	0.0080	-62	c.-27 others(73): Show c.-2781_-2720delTATATATTACATATATGACTCTGTATAGTTATAT ATATTACATATATGACTCTGTATAGTTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2723		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241645	CTGTATAG others(55): Show CTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATATT ACATATATGACTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	374	0.0027	-62	c.-26 others(73): Show c.-2698_-2637delTGTATAGTTATATATATTACATATATGACTCTGT ATAGTTATATATATTACATATATGACTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2640		chr12	TogoVar
STKLD1_chr9_133371366_133411096	133393232	ACGGATGG others(55): Show ACGGATGGATGAATGGGAGGGTAGGTAAGTGGATGGGTGGGCGGGTGGAT GGATAGGTGGGTG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0147 a0001c0009t0001g0147	1	356	0.0028	-62	c.584 others(78): Show c.584-1058_584-997delCGGATGGATGAATGGGAGGGTAGGTAAGT GGATGGGTGGGCGGGTGGATGGATAGGTGGGTG	STKLD1	ENSG00000198870.8	transcript	ENST00000371957.4	protein_coding	7/17			chr9	TogoVar
STON1_chr2_48525154_48603513	48564490	TTCTTCTT others(55): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03669.hp1 HG02683.hp1 HG03669.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0315 a0003c0004t0004g0316 a0003c0004t0004g0315 a0003c0004t0004g0316	2	376	0.0053	-62	c.-47 others(81): Show c.-47-16095_-47-16034delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STX2_chr12_130784600_130844250	130843370	ATATATAT others(55): Show ATATATATTATATATATTATATATACATTATATATATAATATATATAATT TATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	380	0.0026	-62	c.-43 others(73): Show c.-4333_-4272delATATATATATATAAATTATATATATTATATATAT AATGTATATATAATATATATAATATATA	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		4121		chr12	TogoVar
STXBP6_chr14_24804454_25055147	25003685	ATCACATC others(55): Show ATCACATCCTACTACACTGATACAGCAACCACTTAGCATGTCATCACTTT CCCTTCTTAAATC	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04228.hp1 HG03927.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0070 a0001c0001t0024 a0001c0001t0070	a0001c0001t0024g0237 a0001c0001t0070g0138 a0001c0001t0024g0237 a0001c0001t0070g0138	2	242	0.0083	-62	c.-32 others(81): Show c.-32-28897_-32-28836delGATTTAAGAAGGGAAAGTGATGACAT GCTAAGTGGTTGCTGTATCAGTGTAGTAGGATGTGA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5			chr14	TogoVar

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