Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RASA3_chr13_113972783_114137623	114119696	TCCCTCTC others(68): Show TCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCCTCTCTCCAG CCAGGCGTCGATCAGCGCCCCCCTCC	T T	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	67	0.0149	-75	c.55+ others(92): Show c.55+12664_55+12738delGGAGGGGGGCGCTGATCGACGCCTGGCT GGAGAGAGGGAGGGGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79491028	AGAGGAGA others(68): Show AGAGGAGAGGGGAGGGGAGGAAAGGAGAGGGGAGGGGAGGGGAGGGGAGG CGAGGGGAGGCGAGGGGAGGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0116 a0001c0001t0006g0116	1	154	0.0065	-75	c.-31 others(94): Show c.-319-8505_-319-8431delCCCTCCCCTCCCCTCGCCTCCCCTCG CCTCCCCTCCCCTCCCCTCCCCTCTCCTTTCCTCCCCTCCCCTCTCCTC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBM26_chr13_79313868_79411255	79392135	CAATAATA others(68): Show CAATAATACATAATTATTATATAATTATATATTATACAATAATACATAAT TATTATATAATTATATATTATACAAT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	328	0.0031	-75	c.72- others(92): Show c.72-13303_72-13229delATTGTATAATATATAATTATATAATAAT TATGTATTATTGTATAATATATAATTATATAATAATTATGTATTATT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	1/21			chr13	TogoVar
RFC4_chr3_186784900_186811482	186811407	GCCGGGCA others(68): Show GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	432	0.0023	-75	c.-52 others(86): Show c.-5204_-5130delGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG	RFC4	ENSG00000163918.12	transcript	ENST00000296273.7	protein_coding		4926		chr3	TogoVar
RIMBP2_chr12_130391133_130721299	130626356	CGACTACC others(68): Show CGACTACCACTGGCATCACCACCATCTTCTCCATCACGACTACCGCCAGC ATCACCATCAGCTCCTCCATCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02109.hp2 others(18): Show HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02970.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0019	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0019 a0001c0022 a0001c0043 a0001c0044 a0002c0009 a0002c0010 a0002c0014 a0002c0026 a0004c0041 a0006c0018 a0019c0038	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0019t0001 a0001c0022t0001 a0001c0043t0001 a0001c0044t0001 a0002c0009t0001 a0002c0010t0001 a0002c0014t0004 a0002c0026t0001 a0004c0041t0003 a0006c0018t0001 a0019c0038t0001	a0001c0001t0001g0069 a0001c0002t0001g0051 a0001c0002t0001g0054 others(18): Show a0001c0001t0001g0069 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0002g0060 a0001c0003t0001g0058 a0001c0003t0001g0154 a0001c0005t0001g0129 a0001c0006t0001g0061 a0001c0019t0001g0089 a0001c0022t0001g0101 a0001c0043t0001g0108 a0001c0044t0001g0067 a0002c0009t0001g0147 a0002c0009t0001g0174 a0002c0010t0001g0027 a0002c0010t0001g0131 a0002c0014t0004g0144 a0002c0026t0001g0117 a0004c0041t0003g0068 a0006c0018t0001g0059 a0019c0038t0001g0090	21	180	0.1167	-75	c.-21 others(94): Show c.-217+1891_-217+1965delATGGTGATGGAGGAGCTGATGGTGAT GCTGGCGGTAGTCGTGATGGAGAAGATGGTGGTGATGCCAGTGGTAGTC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIPOR2_chr6_24799284_24940960	24927152	CCACCACC others(68): Show CCACCACCACAACTACAATCACCACCACCATGACCACCACCACAACTACA AGCACCACCACCACCACTACCACCAG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01975.hp1 HG02300.hp1 HG01952.hp2 HG01975.hp1 HG02300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0005 a0001c0001t0001 a0005c0007t0005	a0001c0001t0001g0166 a0005c0007t0005g0164 a0005c0007t0005g0165 a0001c0001t0001g0166 a0005c0007t0005g0164 a0005c0007t0005g0165	3	328	0.0092	-75	c.61+ others(90): Show c.61+8611_61+8685delCTGGTGGTAGTGGTGGTGGTGGTGCTTGTA GTTGTGGTGGTGGTCATGGTGGTGGTGATTGTAGTTGTGGTGGTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RNF168_chr3_196463783_196508768	196470045	CCAGTTTC others(68): Show CCAGTTTCAATGATCCAGACTGTCAGTCACCCCATCCAGCCTCATCCTCA TCTGGACCCATTTCTCACCACCCAAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp2 HG02602.hp2 HG03710.hp2 others(5): Show HG02132.hp2 HG02602.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp2 NA18975.hp1 NA18988.hp1 NA18990.hp1	a0004 a0008 a0004 a0008	a0004c0005 a0008c0011 a0004c0005 a0008c0011	a0004c0005t0013 a0008c0011t0013 a0004c0005t0013 a0008c0011t0013	a0004c0005t0013g0004 a0004c0005t0013g0278 a0004c0005t0013g0279 others(3): Show a0004c0005t0013g0004 a0004c0005t0013g0278 a0004c0005t0013g0279 a0004c0005t0013g0280 a0008c0011t0013g0281 a0008c0011t0013g0282	8	350	0.0229	-75	c.16 others(86): Show c.1699_*1773delATTGGGTGGTGAGAAATGGGTCCAGATGAGGATG AGGCTGGATGGGGTGACTGACAGTCTGGATCATTGAAACTG	RNF168	ENSG00000163961.4	transcript	ENST00000318037.3	protein_coding	6/6	1699		chr3	TogoVar
RNF168_chr3_196463783_196508768	196470185	CACCACCC others(68): Show CACCACCCAATCAGTTTCAATGATCCAGACTGTCAGTCACCCCATCCAGC CACATCCTCATCTGGACCAGTTTCTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02040.hp2 HG02083.hp2 others(1): Show HG02015.hp1 HG02040.hp2 HG02083.hp2 HG02280.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0028 a0009c0012t0096 a0001c0001t0028 a0009c0012t0096	a0001c0001t0028g0166 a0001c0001t0028g0207 a0001c0001t0028g0231 others(1): Show a0001c0001t0028g0166 a0001c0001t0028g0207 a0001c0001t0028g0231 a0009c0012t0096g0318	4	350	0.0114	-75	c.15 others(86): Show c.1559_*1633delCAGAAACTGGTCCAGATGAGGATGTGGCTGGATG GGGTGACTGACAGTCTGGATCATTGAAACTGATTGGGTGGT	RNF168	ENSG00000163961.4	transcript	ENST00000318037.3	protein_coding	6/6	1559		chr3	TogoVar
RNF213_chr17_80255852_80403794	80314001	ATGGTGGA others(68): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAGGT GGTGGAGGTAATGGAGGTGATGGTGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0022 a0022	a0022c0126 a0022c0126	a0022c0126t0067 a0022c0126t0067	a0022c0126t0067g0180 a0022c0126t0067g0180	1	292	0.0034	-75	c.281 others(92): Show c.2811+845_2811+919delAATGGAGGTGATGGTGGTGGTGGTGGTG ATGGTGGAGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314328	ATGGTGGT others(68): Show ATGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGA GGTGATGGTGGAGGTAATGGAGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02055.hp1 HG02280.hp1 others(10): Show HG00544.hp2 HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03453.hp1 HG06807.hp2 NA19043.hp1	a0009 a0010 a0014 others(4): Show a0009 a0010 a0014 a0021 a0033 a0088 a0090	a0009c0016 a0010c0017 a0014c0020 others(4): Show a0009c0016 a0010c0017 a0014c0020 a0021c0032 a0033c0143 a0088c0116 a0090c0114	a0009c0016t0003 a0009c0016t0059 a0010c0017t0006 others(7): Show a0009c0016t0003 a0009c0016t0059 a0010c0017t0006 a0010c0017t0012 a0014c0020t0003 a0014c0020t0014 a0021c0032t0036 a0033c0143t0013 a0088c0116t0016 a0090c0114t0066	a0009c0016t0003g0138 a0009c0016t0059g0098 a0010c0017t0006g0089 others(10): Show a0009c0016t0003g0138 a0009c0016t0059g0098 a0010c0017t0006g0089 a0010c0017t0006g0090 a0010c0017t0012g0097 a0014c0020t0003g0002 a0014c0020t0003g0277 a0014c0020t0014g0257 a0021c0032t0036g0021 a0021c0032t0036g0022 a0033c0143t0013g0177 a0088c0116t0016g0238 a0090c0114t0066g0258	13	292	0.0445	-75	c.281 others(94): Show c.2811+1180_2811+1254delTGGAGGTACTGGAGGTGATGGCGGTC GTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315035	GAAGGTGA others(68): Show GAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGG TGGAGGTAATGGAGGTGATGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG01346.hp2 others(3): Show HG01081.hp2 HG01167.hp2 HG01346.hp2 HG03704.hp1 HG06807.hp2 NA18980.hp1	a0002 a0009 a0023 others(1): Show a0002 a0009 a0023 a0032	a0002c0010 a0009c0016 a0009c0089 others(2): Show a0002c0010 a0009c0016 a0009c0089 a0023c0087 a0032c0022	a0002c0010t0004 a0009c0016t0003 a0009c0016t0009 others(3): Show a0002c0010t0004 a0009c0016t0003 a0009c0016t0009 a0009c0089t0005 a0023c0087t0013 a0032c0022t0012	a0002c0010t0004g0187 a0009c0016t0003g0138 a0009c0016t0009g0103 others(3): Show a0002c0010t0004g0187 a0009c0016t0003g0138 a0009c0016t0009g0103 a0009c0089t0005g0104 a0023c0087t0013g0213 a0032c0022t0012g0170	6	292	0.0206	-75	c.281 others(94): Show c.2811+1887_2811+1961delATGGAGGTGATGGTGGTGGTGAAGGT GATGGTGGAGGTAATGGAGGTGATGGTGGTAAAGGTGATGGTGGAGGTA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355618	TGGGAATG others(68): Show TGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGGACGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGACC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0049 a0013c0012t0049	a0013c0012t0049g0217 a0013c0012t0049g0217	1	292	0.0034	-75	c.108 others(96): Show c.10862+1061_10862+1135delGGGAAGAAGCGGGGTGGACGGGAA TGGGGGCTTACAGGGGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTACA G	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355637	GGGAAGAA others(68): Show GGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGGAAGAAGCGG GGTGACCGGGAATGGGGGCTTACAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02976.hp2 HG00639.hp1 HG02976.hp2	a0001 a0102 a0001 a0102	a0001c0001 a0102c0128 a0001c0001 a0102c0128	a0001c0001t0001 a0102c0128t0008 a0001c0001t0001 a0102c0128t0008	a0001c0001t0001g0040 a0102c0128t0008g0168 a0001c0001t0001g0040 a0102c0128t0008g0168	2	292	0.0069	-75	c.108 others(96): Show c.10862+1093_10862+1167delTACAGGGGGAAGAAGCGGGGTGAC CGGGAATGGGGGCTTACAGAGGAAGAAGCGGGGTGGACGGGAATGGGGGC T	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNGTT_chr6_88604897_88968618	88947711	CATATTCT others(68): Show CATATTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGAT GTGAGGAGCGCCTCTGCCCGGCCGAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG03453.hp1 others(3): Show HG02109.hp2 HG02280.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0016 a0001c0001t0004 a0001c0001t0011 a0001c0001t0016	a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 others(3): Show a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0011g0158 a0001c0001t0016g0220	6	220	0.0273	-75	c.65- others(90): Show c.65-6606_65-6532delCTCGGCCGGGCAGAGGCGCTCCTCACATCC CAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGAATAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	1/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	78842306	ATTTATAT others(68): Show ATTTATATATATGAGCCATATATATTTTTATATATATGAGCCATATATAT TTTTATATATATGAGCCATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02280.hp2 others(10): Show HG01884.hp1 HG02109.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02717.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0003c0006 a0003c0009	a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 others(6): Show a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0004 a0001c0002t0016 a0001c0005t0002 a0001c0011t0001 a0003c0006t0006 a0003c0009t0017	a0001c0001t0011g0025 a0001c0001t0012g0027 a0001c0002t0001g0020 others(10): Show a0001c0001t0011g0025 a0001c0001t0012g0027 a0001c0002t0001g0020 a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0002t0004g0021 a0001c0002t0016g0044 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0011t0001g0038 a0003c0006t0006g0011 a0003c0006t0006g0040 a0003c0009t0017g0042	13	44	0.2955	-75	c.500 others(94): Show c.500-95481_500-95407delAATATATATGGCTCATATATATAAAA ATATATATGGCTCATATATATAAAAATATATATGGCTCATATATATAAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	4/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	78845193	GTTTTAGA others(68): Show GTTTTAGAGATTTAATATGAAAAAAGTGTAGATCTCTCATGAATTCAGAT GTGTGTAAGTATAAAATGTGCACAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0017 a0003c0009t0017	a0003c0009t0017g0042 a0003c0009t0017g0042	1	44	0.0227	-75	c.499 others(94): Show c.499+93333_499+93407delTCTGTGCACATTTTATACTTACACAC ATCTGAATTCATGAGAGATCTACACTTTTTTCATATTAAATCTCTAAAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	4/30			chr3	TogoVar
RPS24_chr10_78028863_78045697	78030491	TTTTTTTT others(68): Show TTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCTAGACTGGAGTGCAGTGGCGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	430	0.0023	-75	c.-34 others(86): Show c.-3410_-3336delTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCTAGACTGGAGTGCAGTGGCGA	RPS24	ENSG00000138326.21	transcript	ENST00000372360.9	protein_coding		3371		chr10	TogoVar
RYR2_chr1_237037184_237838988	237591114	TTCCCCCT others(68): Show TTCCCCCTTCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCC CCTTCTCCTCCTCCCCCTTCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0015 a0006c0020t0001g0015	1	100	0.0100	-75	c.416 others(92): Show c.4160+145_4160+219delCCTCCTCCTCCCCCTCCTCCTCTTCCCC CTTCTCCTCCTCCCCCTTCTCCTCCTCCCCCTTCTCCTCCTCCCCCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	31/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S1PR4_chr19_3173769_3185332	3174746	CCCTCATG others(68): Show CCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGAC GCCTGTGCCCTCATGGGACGCCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01993.hp1 others(1): Show HG00642.hp1 HG01069.hp1 HG01993.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	418	0.0096	-75	c.-40 others(86): Show c.-4046_-3972delCCTCATGGGACGCCTGTGCCCTCATGGGACGCCT GTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4022		chr19	TogoVar
SALL3_chr18_78974818_79003969	79002906	ACCTTTTT others(68): Show ACCTTTTTACAAATAGGGATAAAATATCTAAATGACAAAATCATTTTTAT AACTGACAAGGTCTTTTAATGTTTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	315	0.0032	-75	c.55 others(86): Show c.5585_*5659delCCTTTTTACAAATAGGGATAAAATATCTAAATGA CAAAATCATTTTTATAACTGACAAGGTCTTTTAATGTTTCT	SALL3	ENSG00000256463.10	transcript	ENST00000537592.7	protein_coding		3938		chr18	TogoVar
SAMHD1_chr20_36885229_36956708	36947274	CTCCTGGG others(68): Show CTCCTGGGAAAGCACTCAATACTCTGATTTGGAAGAGGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA21309.hp2 HG02922.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0335 a0001c0001t0016g0310 a0001c0001t0002g0335 a0001c0001t0016g0310	2	340	0.0059	-75	c.209 others(90): Show c.209-545_209-471delCACACACACACACACACACACACACACACA CACACACACCTCTTCCAAATCAGAGTATTGAGTGCTTTCCCAGGA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SCN1A_chr2_165980813_166133020	166049124	TACTTTAC others(68): Show TACTTTACAGTGCAAAGTATTTCTTCATTATGAAGAAATGACATTAGATT AGATACAGTGCAAAGATACTTTAGAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(69): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp1 HG02055.hp2 HG02074.hp1 HG02135.hp1 HG02155.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03195.hp2 HG03516.hp2 HG03688.hp1 HG03710.hp1 HG04199.hp1 HG04204.hp1 NA18939.hp1 NA18941.hp2 NA18947.hp1 NA18952.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA19001.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19078.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 others(14): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 a0001c0001t0023 a0001c0001t0028 a0001c0001t0035 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0081 a0001c0023t0023	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 others(69): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0224 a0001c0001t0001g0263 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0012g0006 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0012 a0001c0001t0017g0018 a0001c0001t0017g0028 a0001c0001t0017g0056 a0001c0001t0017g0322 a0001c0001t0023g0146 a0001c0001t0023g0252 a0001c0001t0028g0008 a0001c0001t0028g0011 a0001c0001t0035g0082 a0001c0001t0035g0083 a0001c0001t0046g0352 a0001c0001t0046g0353 a0001c0001t0047g0007 a0001c0001t0048g0005 a0001c0001t0050g0249 a0001c0001t0063g0051 a0001c0001t0064g0106 a0001c0001t0065g0066 a0001c0001t0066g0203 a0001c0001t0067g0184 a0001c0001t0081g0231 a0001c0023t0023g0176	72	356	0.2023	-75	c.965 others(90): Show c.965-250_965-176delGTCTAAAGTATCTTTGCACTGTATCTAATC TAATGTCATTTCTTCATAATGAAGAAATACTTTGCACTGTAAAGT	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1290104	TCCGTCCC others(68): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTC	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0022 a0022	a0022c0040 a0022c0040	a0022c0040t0012 a0022c0040t0012	a0022c0040t0012g0159 a0022c0040t0012g0159	1	290	0.0035	-75	c.166 others(91): Show c.1663-165_1663-91delCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINB7_chr18_63770418_63810370	63785889	TATATATA others(68): Show TATATATAATATACGTATATATACACATATATAATATACGTATATATACA CATATATAATATACTTATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02145.hp2 HG02886.hp1 others(2): Show HG01255.hp2 HG02145.hp2 HG02886.hp1 HG03041.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0268 a0001c0001t0003g0269 others(2): Show a0001c0001t0003g0093 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0280	5	432	0.0116	-75	c.168 others(92): Show c.168+3413_168+3487delTTATATATACACATATATAATATACGTA TATATACACATATATAATATACGTATATATACACATATATAATATAC	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SIGIRR_chr11_400716_419999	412050	GGGGGGTG others(68): Show GGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCC AGCTCTGACCATGTCTGGATACAGTC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	242	0.0041	-75	c.-15 others(94): Show c.-153-2098_-153-2024delGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412487	GGGGGTGC others(68): Show GGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGTGCCC AGCTCTGACCATGTCTGGATACAGTC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	242	0.0041	-75	c.-15 others(94): Show c.-154+2261_-154+2335delGACTGTATCCAGACATGGTCAGAGCT GGGCACCCCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIK3_chr11_116838402_117103428	117097680	CCTGGGTC others(68): Show CCTGGGTCCCCTTACAAGCCCGGGTCTGCCACTTCACCCTTGTTTTTCCC CATCCTCCGGGTCCACATTTCATATG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0008 a0004c0006t0008	a0004c0006t0008g0361 a0004c0006t0008g0361	1	366	0.0027	-75	c.273 others(90): Show c.273+388_273+462delCATATGAAATGTGGACCCGGAGGATGGGGA AAAACAAGGGTGAAGTGGCAGACCCGGGCTTGTAAGGGGACCCAG	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1063628	TCCACCTC others(68): Show TCCACCTCCTGATCTCCCCCTCCACCCCCACCTCACGAGGCCACAGCCCT CCCGATCTCCACTTCCCCCTCCACCC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03579.hp1 HG03195.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0016 a0001c0009 a0002c0016	a0001c0009t0010 a0002c0016t0001 a0001c0009t0010 a0002c0016t0001	a0001c0009t0010g0081 a0002c0016t0001g0057 a0001c0009t0010g0081 a0002c0016t0001g0057	2	118	0.0170	-75	c.273 others(92): Show c.2739+141_2739+215delGGGTGGAGGGGGAAGTGGAGATCGGGAG GGCTGTGGCCTCGTGAGGTGGGGGTGGAGGGGGAGATCAGGAGGTGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3310341	TCTCCCAG others(68): Show TCTCCCAGGGAGCACCCTGTCTCCCACTCGAGCACCCTGTCTCCCACTCG AGCACCCTGTCTCCCACTCAAGCACC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	222	0.0045	-75	c.108 others(96): Show c.1083-12198_1083-12124delGGTGCTTGAGTGGGAGACAGGGTG CTCGAGTGGGAGACAGGGTGCTCGAGTGGGAGACAGGGTGCTCCCTGGGA G	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	4/9			chr6	TogoVar
SLC22A25_chr11_63153437_63248599	63208074	ACTCATCC others(68): Show ACTCATCCAGGATTGGAGATGACAGATTTACTGTCTCCTTTGCCTGTGGG ACTACAGCCCTGTGGCCATGGGAGAC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0031 a0003c0003t0031	a0003c0003t0031g0034 a0003c0003t0031g0034	1	344	0.0029	-75	c.830 others(92): Show c.830+9165_830+9239delGTCTCCCATGGCCACAGGGCTGTAGTCC CACAGGCAAAGGAGACAGTAAATCTGTCATCTCCAATCCTGGATGAG	SLC22A25	ENSG00000196600.13	transcript	ENST00000306494.11	protein_coding	7/11			chr11	TogoVar
SLC28A1_chr15_84879662_84950798	84928553	TCTTTCTT others(68): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTTCTTTCTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02723.hp1 others(5): Show HG02055.hp2 HG02257.hp1 HG02723.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03486.hp1 NA20129.hp2	a0001 a0015 a0001 a0015	a0001c0002 a0001c0004 a0001c0021 others(1): Show a0001c0002 a0001c0004 a0001c0021 a0015c0031	a0001c0002t0006 a0001c0004t0002 a0001c0021t0001 others(1): Show a0001c0002t0006 a0001c0004t0002 a0001c0021t0001 a0015c0031t0006	a0001c0002t0006g0286 a0001c0002t0006g0394 a0001c0004t0002g0194 others(5): Show a0001c0002t0006g0286 a0001c0002t0006g0394 a0001c0004t0002g0194 a0001c0004t0002g0250 a0001c0021t0001g0264 a0001c0021t0001g0265 a0015c0031t0006g0333 a0015c0031t0006g0334	8	396	0.0202	-75	c.108 others(94): Show c.1083+4444_1084-4517delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18			chr15	TogoVar
SLC38A10_chr17_81239811_81300307	81274711	GCAAGGAG others(68): Show GCAAGGAGAGAACCAGGACAGCCCCACGCTCGGGGCGAAAGACAGCGCAG CGGGCCTTTCATGGTTCACTCTGCCA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0086 a0002c0001t0002g0086	1	214	0.0047	-75	c.912 others(92): Show c.912+1183_912+1257delTGGCAGAGTGAACCATGAAAGGCCCGCT GCGCTGTCTTTCGCCCCGAGCGTGGGGCTGTCCTGGTTCTCTCCTTG	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	8/15			chr17	TogoVar
SLC39A14_chr8_22362278_22427736	22396427	AGAGAGAG others(68): Show AGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0055 a0001c0007t0006g0055	1	324	0.0031	-75	c.-15 others(92): Show c.-15-8247_-15-8173delGGGGGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAG	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79919731	GAGGAGAG others(68): Show GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAG GAACCGAGTGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 NA18942.hp1 HG00423.hp2 HG00558.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0125 a0001c0001t0004g0131 a0001c0001t0004g0004 a0001c0001t0004g0125 a0001c0001t0004g0131	3	352	0.0085	-75	c.392 others(90): Show c.392-406_392-332delACTGACCTTGACCTCTCACTCGGTTCCTGT CTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTCTCCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920456	GGGGAGAG others(68): Show GGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18980.hp1 NA18942.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0125 a0001c0001t0004g0126	2	352	0.0057	-75	c.392 others(92): Show c.392-1131_392-1057delACTGACCTTGACCTCTCCCTCGGTTCCT GTCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTCTCCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920800	GAGGAGAG others(68): Show GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAG GAACCGAGTGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	352	0.0028	-75	c.392 others(92): Show c.392-1475_392-1401delACTGACCTTGACCTCTCACTCGGTTCCT GTCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTCTCCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921069	AGGAGAGA others(68): Show AGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGA ACCGAGTGAGAGGTCAAGGTCAGTGG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19084.hp1 NA18948.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0015 a0001c0001t0004g0016	2	352	0.0057	-75	c.392 others(92): Show c.392-1744_392-1670delCCACTGACCTTGACCTCTCACTCGGTTC CATCTCTCCCCACTGAGCTTGACCTCTCACTCGGTTCCTGTCTCTCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921220	GAGGAGAG others(68): Show GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGG GAACCGAGGGAGAGGTCAGGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp1 HG03486.hp1 others(2): Show HG02723.hp1 HG02922.hp1 HG03486.hp1 HG04184.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0021	a0001c0001t0002g0152 a0001c0001t0006g0236 a0001c0001t0007g0269 others(2): Show a0001c0001t0002g0152 a0001c0001t0006g0236 a0001c0001t0007g0269 a0001c0001t0010g0165 a0001c0001t0021g0268	5	352	0.0142	-75	c.392 others(92): Show c.392-1895_392-1821delACTGACCCTGACCTCTCCCTCGGTTCCC GTCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTCTCCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A18_chr5_1220381_1251189	1238431	GTCAGGTT others(68): Show GTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGAGGACTCAGGAAAGACA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0115 a0002c0001t0001g0115	1	456	0.0022	-75	c.732 others(90): Show c.732+389_732+463delTTGGGGCCTCAGGAAAGAGGTCAGGTTTGG AGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGC	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238567	CCTCAGGA others(68): Show CCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCAGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGAGCCTGGAGGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG02273.hp2 others(6): Show HG00639.hp1 HG01884.hp2 HG02273.hp2 HG02615.hp1 HG02622.hp1 HG02965.hp2 HG04199.hp1 NA19030.hp2 NA20905.hp2	a0003 a0020 a0003 a0020	a0003c0004 a0003c0033 a0003c0037 others(1): Show a0003c0004 a0003c0033 a0003c0037 a0020c0036	a0003c0004t0001 a0003c0033t0001 a0003c0037t0001 others(1): Show a0003c0004t0001 a0003c0033t0001 a0003c0037t0001 a0020c0036t0001	a0003c0004t0001g0016 a0003c0004t0001g0154 a0003c0004t0001g0284 others(5): Show a0003c0004t0001g0016 a0003c0004t0001g0154 a0003c0004t0001g0284 a0003c0004t0001g0304 a0003c0004t0001g0391 a0003c0033t0001g0285 a0003c0037t0001g0303 a0020c0036t0001g0109	9	456	0.0197	-75	c.732 others(90): Show c.732+535_732+609delAGCCAGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGAGCCTGGAGGACTCAGGAAAGAGGTCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC8A1_chr2_40092270_40457090	40260450	GATTGACT others(68): Show GATTGACTTAGGCTGATCAGAAACAAAACTTTAACAGTAACGTCTAAAAT AAGTGAACTTTGTTTTATAAGTCTTC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0171 a0001c0001t0117g0171	1	236	0.0042	-75	c.180 others(96): Show c.1809-82032_1809-81958delGAAGACTTATAAAACAAAGTTCAC TTATTTTAGACGTTACTGTTAAAGTTTTGTTTCTGATCAGCCTAAGTCAA T	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLMAP_chr3_57751309_57935003	57853968	TATATATA others(68): Show TATATATATATATATATATATATATATATATATTTACATATAATATATAT TATATATAATATATAATGTGTATATA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01257.hp1 others(2): Show HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 others(2): Show a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0165	5	310	0.0161	-75	c.520 others(92): Show c.520-3764_520-3690delATATATATATATATATATATATATATAT ATATTTACATATAATATATATTATATATAATATATAATGTGTATATA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	6/24			chr3	TogoVar
SMIM10L1_chr12_11166194_11181016	11168276	GAAAGAAA others(68): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG01943.hp1 others(3): Show HG00099.hp2 HG01192.hp2 HG01943.hp1 HG02300.hp1 HG03669.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	6	397	0.0151	-75	c.-30 others(86): Show c.-3080_-3006delAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2917		chr12	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(68): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00639.hp2 others(17): Show HG00140.hp2 HG00609.hp2 HG00639.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01981.hp1 HG02071.hp2 HG02486.hp1 HG02683.hp2 HG03017.hp1 HG04184.hp1 NA18747.hp1 NA18985.hp2 NA18988.hp1 NA18999.hp2 NA19063.hp2 NA19068.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0083 a0001c0001t0002g0002 a0001c0001t0002g0005 others(7): Show a0001c0001t0001g0083 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0044 a0001c0001t0002g0139 a0001c0001t0003g0089	20	380	0.0526	-75	c.17 others(86): Show c.1711_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMOC2_chr6_168436184_168672992	168478807	CGTTGAAT others(68): Show CGTTGAATGATTCATGGTATCTGGTCTAGAACAGCCCTGGTTTACAGACC CTGTCTCGGGGAAAGGAGTCAGGAAT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA21309.hp1 HG03490.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0045 a0001c0002t0008g0047 a0001c0002t0008g0045 a0001c0002t0008g0047	2	180	0.0111	-75	c.85- others(92): Show c.85-31048_85-30974delGAAAGGAGTCAGGAATGTTGAATGATTC ATGGTATCTGGTCTAGAACAGCCCTGGTTTACAGACCCTGTCTCGGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	960565	ATAGGTTC others(68): Show ATAGGTTCTGAAGGGGGTGCTCCTACTGCCTGCTCATGGGAGCACGGTGA GCTCTGAGGGTTCCCGGGCATGGCTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp1 HG02970.hp1 others(6): Show HG02109.hp2 HG02895.hp1 HG02970.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 NA20129.hp1 NA20300.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0007 a0014 a0015	a0001c0002 a0003c0007 a0003c0008 others(5): Show a0001c0002 a0003c0007 a0003c0008 a0004c0014 a0005c0006 a0007c0024 a0014c0035 a0015c0036	a0001c0002t0001 a0001c0002t0002 a0003c0007t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0003c0007t0001 a0003c0008t0002 a0004c0014t0002 a0005c0006t0002 a0007c0024t0002 a0014c0035t0001 a0015c0036t0001	a0001c0002t0001g0069 a0001c0002t0002g0002 a0003c0007t0001g0068 others(6): Show a0001c0002t0001g0069 a0001c0002t0002g0002 a0003c0007t0001g0068 a0003c0008t0002g0072 a0004c0014t0002g0001 a0005c0006t0002g0003 a0007c0024t0002g0073 a0014c0035t0001g0071 a0015c0036t0001g0070	9	190	0.0474	-75	c.72+ others(90): Show c.72+9541_72+9615delCGGTGAGCTCTGAGGGTTCCCGGGCATGGC TGTAGGTTCTGAAGGGGGTGCTCCTACTGCCTGCTCATGGGAGCA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221622	CTCGTGTC others(68): Show CTCGTGTCGGTGCTCCGGTTCCCCCCAACCTCTGTCTCGGTCCCCCCCGG TCTCGGTCTCTCTCTCTCTCGGTTCT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03017.hp1 HG01975.hp1 HG03017.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0030 a0002c0003t0001g0091 a0002c0003t0001g0030 a0002c0003t0001g0091	2	190	0.0105	-75	c.719 others(94): Show c.719+12395_719+12469delGTGTCGGTGCTCCGGTTCCCCCCAAC CTCTGTCTCGGTCCCCCCCGGTCTCGGTCTCTCTCTCTCTCGGTTCTTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222872	CCTGCTGC others(68): Show CCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATG GAGGGCGTCTCCCTGTCCTGCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18522.hp1 HG02273.hp1 NA18522.hp1	a0005 a0006 a0005 a0006	a0005c0006 a0006c0009 a0005c0006 a0006c0009	a0005c0006t0001 a0006c0009t0001 a0005c0006t0001 a0006c0009t0001	a0005c0006t0001g0079 a0006c0009t0001g0011 a0005c0006t0001g0079 a0006c0009t0001g0011	2	190	0.0105	-75	c.719 others(94): Show c.719+13643_719+13717delCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SON_chr21_33538038_33582481	33577602	CCTACACA others(68): Show CCTACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01975.hp2 HG02486.hp1 HG01891.hp2 HG01975.hp2 HG02486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0125 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0125	3	364	0.0082	-75	c.11 others(86): Show c.1179_*1253delCTACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACA	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		122		chr21	TogoVar
SORBS2_chr4_185580523_185817194	185710111	TCCCAAGG others(68): Show TCCCAAGGTTGAAGATCCCCAGTAATATTTCAGCTTGCTTTCACTCGATG TTAATCCAACACCTATAACTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(49): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00558.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp1 HG01934.hp1 HG01975.hp2 HG02055.hp1 HG02071.hp1 HG02257.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02698.hp1 HG02809.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03669.hp1 HG06807.hp2 NA18747.hp1 NA18947.hp1 NA18952.hp1 NA18962.hp1 NA18967.hp1 NA18971.hp1 NA18983.hp2 NA19000.hp2 NA19043.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19077.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0015 a0001c0017 a0001c0034 a0001c0038 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0027 a0001c0001t0052 a0001c0001t0053 a0001c0001t0058 a0001c0001t0059 a0001c0001t0068 a0001c0002t0001 a0001c0002t0014 a0001c0002t0034 a0001c0003t0001 a0001c0004t0014 a0001c0004t0026 a0001c0005t0074 a0001c0009t0004 a0001c0015t0004 a0001c0017t0018 a0001c0034t0006 a0001c0038t0025 a0002c0012t0056	a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0104 others(49): Show a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0142 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0216 a0001c0001t0002g0014 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0130 a0001c0001t0002g0296 a0001c0001t0002g0303 a0001c0001t0003g0118 a0001c0001t0003g0185 a0001c0001t0003g0231 a0001c0001t0003g0280 a0001c0001t0004g0105 a0001c0001t0006g0128 a0001c0001t0006g0132 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0006g0254 a0001c0001t0007g0270 a0001c0001t0008g0178 a0001c0001t0008g0194 a0001c0001t0008g0207 a0001c0001t0012g0081 a0001c0001t0013g0124 a0001c0001t0013g0145 a0001c0001t0014g0089 a0001c0001t0027g0039 a0001c0001t0052g0266 a0001c0001t0053g0274 a0001c0001t0058g0263 a0001c0001t0059g0024 a0001c0001t0068g0234 a0001c0002t0001g0051 a0001c0002t0001g0108 a0001c0002t0014g0095 a0001c0002t0034g0004 a0001c0003t0001g0232 a0001c0003t0001g0273 a0001c0004t0014g0037 a0001c0004t0026g0100 a0001c0005t0074g0018 a0001c0009t0004g0215 a0001c0015t0004g0082 a0001c0017t0018g0197 a0001c0034t0006g0101 a0001c0038t0025g0022 a0002c0012t0056g0044	52	312	0.1667	-75	c.-40 others(94): Show c.-40-19575_-40-19501delGAAAAGAGTTATAGGTGTTGGATTAA CATCGAGTGAAAGCAAGCTGAAATATTACTGGGGATCTTCAACCTTGGG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar

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