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
RTN4RL1_chr17_1929677_2030334	1967123	TGCAGGCC others(43): Show TGCAGGCCCCAGGCTCCCGCCGCTCCTCCCCAGAAGGAAGAGGGGGCCCT G	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03516.hp2 NA20129.hp1 HG01109.hp2 HG03516.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0031 a0001c0001t0017 a0001c0001t0031	a0001c0001t0017g0211 a0001c0001t0031g0202 a0001c0001t0031g0376 a0001c0001t0017g0211 a0001c0001t0031g0202 a0001c0001t0031g0376	3	382	0.0079	-50	c.14- others(67): Show c.14-29365_14-29316delCAGGGCCCCCTCTTCCTTCTGGGGAGGA GCGGCGGGAGCCTGGGGCCTGC	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
RTP5_chr2_241864729_241878823	241866010	GTGTGTGG others(43): Show GTGTGTGGTGTGTGTGGCTTGTAGTGTGTGGTGTGTGTGGCGTGTGTGGC A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	364	0.0027	-50	c.-37 others(61): Show c.-3746_-3697delTGTGTGGTGTGTGTGGCTTGTAGTGTGTGGTGTG TGTGGCGTGTGTGGCA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3718		chr2	TogoVar
RUBCN_chr3_197663867_197741904	197732136	CTGACTGT others(43): Show CTGACTGTACCTGGATCACGGTGCCAGGAGCACTGAGCAGTACATGTACC T	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0046 a0001c0001t0034g0046	1	184	0.0054	-50	c.65+ others(65): Show c.65+4469_65+4518delAGGTACATGTACTGCTCAGTGCTCCTGGCA CCGTGATCCAGGTACAGTCA	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	1/19			chr3	TogoVar
RUFY2_chr10_68338408_68412277	68406102	AGTATAAC others(43): Show AGTATAACATTTCATAATCTCTGACAAATTTACAAGTAATCAATGTGCCC G	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03471.hp2 HG01106.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0187 a0001c0001t0011g0188 a0001c0001t0011g0187 a0001c0001t0011g0188	2	274	0.0073	-50	c.4+1 others(63): Show c.4+1034_4+1083delCGGGCACATTGATTACTTGTAAATTTGTCAGA GATTATGAAATGTTATAC	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	1/17			chr10	TogoVar
RUNDC3B_chr7_87623398_87837296	87626698	GTGTCATA others(43): Show GTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATAT A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0037 a0001c0001t0033g0037	1	197	0.0051	-50	c.-21 others(61): Show c.-2125_-2076delTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1699		chr7	TogoVar
RUNX3_chr1_24894511_24935276	24907798	CAAACCTC others(43): Show CAAACCTCTACAACACACGGTGATCTAAACCTCTACAACACACGGTGATC T	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	384	0.0026	-50	c.545 others(65): Show c.545-431_545-382delAGATCACCGTGTGTTGTAGAGGTTTAGATC ACCGTGTGTTGTAGAGGTTT	RUNX3	ENSG00000020633.19	transcript	ENST00000308873.11	protein_coding	3/4			chr1	TogoVar
RYR1_chr19_38428691_38592564	38507465	CGGGGAAC others(43): Show CGGGGAACAGAGGTGGGGCCAAAGGGGAGGAGGCTGAGAGGGGCCGGCCC T	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0002 a0001c0068t0002	a0001c0068t0002g0206 a0001c0068t0002g0206	1	216	0.0046	-50	c.881 others(67): Show c.8817-226_8817-177delAAGGGGAGGAGGCTGAGAGGGGCCGGCC CTGGGGAACAGAGGTGGGGCCA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	57/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237127518	GCCCCCAC others(43): Show GCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACC C	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0064 a0001c0011t0004g0064	1	100	0.0100	-50	c.48+ others(67): Show c.48+84974_48+85023delCGGCTGGCCTGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAE1_chr19_47125835_47215636	47164501	TCCTCTTC others(43): Show TCCTCTTCTTGCCTAGCCATAATCTATTTTACCAGTCACCTATTGTATTG A	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	378	0.0026	-50	c.628 others(67): Show c.628-5316_628-5267delCCTCTTCTTGCCTAGCCATAATCTATTT TACCAGTCACCTATTGTATTGA	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	5/8			chr19	TogoVar
SAG_chr2_233302816_233352055	233307107	ACCTGGGA others(43): Show ACCTGGGAGGCAGAAGTTTCAGCAAGCTGAGACTGCACCACTGCACTTCA G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01891.hp2 HG02145.hp1 others(28): Show HG01358.hp2 HG01891.hp2 HG02145.hp1 HG02258.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19086.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0002c0005 a0002c0007 a0002c0009 a0004c0008 a0011c0013	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0002c0005t0001 a0002c0007t0001 a0002c0009t0001 a0004c0008t0001 a0011c0013t0001	a0001c0001t0001g0019 a0001c0001t0001g0074 a0001c0001t0001g0077 others(26): Show a0001c0001t0001g0019 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0103 a0001c0001t0001g0347 a0001c0003t0001g0317 a0001c0006t0001g0118 a0001c0006t0001g0121 a0001c0006t0001g0122 a0001c0006t0001g0279 a0001c0006t0001g0286 a0001c0006t0001g0292 a0002c0005t0001g0005 a0002c0005t0001g0281 a0002c0005t0001g0282 a0002c0005t0001g0283 a0002c0005t0001g0284 a0002c0005t0001g0287 a0002c0005t0001g0312 a0002c0005t0001g0313 a0002c0007t0001g0072 a0002c0007t0001g0073 a0002c0009t0001g0280 a0002c0009t0001g0288 a0002c0009t0001g0311 a0004c0008t0001g0003 a0004c0008t0001g0075 a0004c0008t0001g0076 a0011c0013t0001g0285	31	366	0.0847	-50	c.-94 others(59): Show c.-943_-894delCCTGGGAGGCAGAAGTTTCAGCAAGCTGAGACTGCA CCACTGCACTTCAG	SAG	ENSG00000130561.17	transcript	ENST00000409110.6	protein_coding		708		chr2	TogoVar
SAMD11_chr1_918923_949574	919772	ACCTAGGC others(43): Show ACCTAGGCCCACGTCCGCCCAGCAGGTGGCAGCTGCATCCCCGGTCCCCT C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0306 a0001c0009t0010g0306	1	432	0.0023	-50	c.-46 others(61): Show c.-4659_-4610delCCTAGGCCCACGTCCGCCCAGCAGGTGGCAGCTG CATCCCCGGTCCCCTC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding		4150		chr1	TogoVar
SARDH_chr9_133658560_133743352	133668782	TCCCTCAC others(43): Show TCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCT C	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0216 a0001c0007t0001g0216	1	246	0.0041	-50	c.249 others(69): Show c.2495+1752_2495+1801delGAGAGGGAGGGTGAGGGGAGATGGAG GGTGAGGGAGAGGGAGGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148387568	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0031 a0002c0004t0031	a0002c0004t0031g0259 a0002c0004t0031g0259	1	320	0.0031	-50	c.157 others(67): Show c.157-2564_157-2515delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAMP1_chr5_78355617_78485739	78392021	GAGAGAGG others(43): Show GAGAGAGGGAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGA A	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG00738.hp2 others(50): Show HG00558.hp1 HG00735.hp2 HG00738.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02109.hp1 HG02148.hp2 HG02273.hp2 HG02486.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp2 NA18612.hp1 NA18949.hp1 NA18953.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18980.hp2 NA18984.hp2 NA18991.hp2 NA18999.hp1 NA19001.hp2 NA19054.hp2 NA19064.hp1 NA19079.hp2 NA19080.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0009 a0001c0002t0011 others(6): Show a0001c0002t0004 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034	a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0004g0013 others(49): Show a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0019 a0001c0002t0004g0023 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0040 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0055 a0001c0002t0004g0059 a0001c0002t0004g0060 a0001c0002t0004g0061 a0001c0002t0004g0062 a0001c0002t0004g0063 a0001c0002t0009g0018 a0001c0002t0009g0041 a0001c0002t0009g0042 a0001c0002t0009g0048 a0001c0002t0009g0057 a0001c0002t0011g0021 a0001c0002t0012g0014 a0001c0002t0012g0038 a0001c0002t0012g0039 a0001c0002t0012g0054 a0001c0002t0013g0001 a0001c0002t0013g0050 a0001c0002t0013g0051 a0001c0002t0016g0020 a0001c0002t0016g0056 a0001c0002t0032g0022 a0001c0002t0033g0058 a0001c0002t0034g0024	53	124	0.4274	-50	c.135 others(67): Show c.135+3125_135+3174delCCGTGGAAAGAGAGGGAGAGGGAGACCG TGGAAAGAGAGGGAGAGGGAGA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCARA5_chr8_27864883_27997673	27865577	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02647.hp2 HG02258.hp2 HG02647.hp2	a0002 a0002	a0002c0010 a0002c0013 a0002c0010 a0002c0013	a0002c0010t0016 a0002c0013t0011 a0002c0010t0016 a0002c0013t0011	a0002c0010t0016g0036 a0002c0013t0011g0256 a0002c0010t0016g0036 a0002c0013t0011g0256	2	11	0.1818	-50	c.63 others(61): Show c.6307_*6356delTATATATATATATATATATATATATATATATATA TATATATATATATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4305		chr8	TogoVar
SCGB1C1_chr11_188078_199575	191841	AACCCTAA others(43): Show AACCCTAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCC T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01192.hp2 HG01106.hp1 HG01192.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	2	354	0.0056	-50	c.-12 others(61): Show c.-1258_-1209delACCCTAACCCTAACCCCTAACCCCTAACCCTAAC CCTAACCCTAACCCCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1236		chr11	TogoVar
SCN11A_chr3_38840764_39056944	38963374	TATATATA others(43): Show TATATATATATATGATGGAGATATATATATATATATATATATATGATGGA G	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG02257.hp1 others(5): Show HG00280.hp2 HG00733.hp2 HG02257.hp1 HG03209.hp1 HG04115.hp1 NA18983.hp1 NA18999.hp2 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0024 a0003c0004 a0001c0002 a0001c0024 a0003c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0024t0001 a0003c0004t0001	a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0002g0204 others(5): Show a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0002g0204 a0001c0002t0004g0054 a0001c0024t0001g0197 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0232	8	310	0.0258	-50	c.-27 others(69): Show c.-279-3001_-279-2952delCTCCATCATATATATATATATATATA TATATCTCCATCATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN3A_chr2_165082526_165209050	165200708	CAGTTTAA others(43): Show CAGTTTAAAGAGGCCTAGGGTGGTTGAAGGGAAGGATTAGGAGGCCTGGG G	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0070 a0001c0001t0015g0070	1	312	0.0032	-50	c.-24 others(69): Show c.-248+3065_-248+3114delCCCCAGGCCTCCTAATCCTTCCCTTC AACCACCCTAGGCCTCTTTAAACT	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	1/27			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166191670	TATATATA others(43): Show TATATATATATACACACACATATATATATATGTATATATATATATATACA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0050 a0001c0004t0005g0050	1	293	0.0034	-50	c.69 others(61): Show c.6952_*7001delGTGTATATATATATATATACATATATATATATGT GTGTGTATATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3514		chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43280943	TCCTGTCA others(43): Show TCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCA C	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	278	0.0036	-50	c.484 others(69): Show c.484+10053_484+10102delGTGACTGAGGAGGAGGTGACAGGAGG GTGGCCAAAGAGGGAGGTGACAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281483	TCTTTGGC others(43): Show TCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCACCT C	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG02074.hp1 others(18): Show HG00408.hp2 HG00597.hp2 HG02074.hp1 HG02129.hp1 HG02165.hp1 HG02976.hp1 HG03453.hp2 HG03688.hp1 HG03710.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18944.hp2 NA18954.hp1 NA18962.hp2 NA18998.hp1 NA19066.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19087.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0022 a0002c0002 a0002c0042 others(4): Show a0001c0022 a0002c0002 a0002c0042 a0002c0059 a0003c0001 a0003c0007 a0015c0057	a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 others(10): Show a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0002t0013 a0002c0002t0055 a0002c0042t0004 a0002c0059t0001 a0003c0001t0001 a0003c0001t0050 a0003c0001t0079 a0003c0007t0001 a0015c0057t0071	a0001c0022t0001g0253 a0002c0002t0001g0120 a0002c0002t0001g0173 others(18): Show a0001c0022t0001g0253 a0002c0002t0001g0120 a0002c0002t0001g0173 a0002c0002t0001g0203 a0002c0002t0002g0035 a0002c0002t0002g0100 a0002c0002t0002g0223 a0002c0002t0011g0003 a0002c0002t0013g0104 a0002c0002t0055g0170 a0002c0042t0004g0242 a0002c0059t0001g0118 a0003c0001t0001g0045 a0003c0001t0001g0065 a0003c0001t0001g0101 a0003c0001t0001g0152 a0003c0001t0001g0191 a0003c0001t0050g0202 a0003c0001t0079g0267 a0003c0007t0001g0099 a0015c0057t0071g0148	21	276	0.0761	-50	c.484 others(67): Show c.484+9513_484+9562delGAGGTGACAGGAGGGTGGCTGAGGAGGA GGTGACAGGAGGGTGGCCAAAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281490	CCACCCTC others(43): Show CCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCACCTCCCTCAG T	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG00741.hp2 others(13): Show HG00280.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01361.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02148.hp1 HG02258.hp1 HG02572.hp1 HG02922.hp2 HG03017.hp1 HG03195.hp2 NA18990.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0003 a0001c0004 a0001c0034 others(5): Show a0001c0003 a0001c0004 a0001c0034 a0002c0002 a0002c0009 a0002c0027 a0003c0001 a0013c0033	a0001c0003t0003 a0001c0004t0036 a0001c0034t0008 others(9): Show a0001c0003t0003 a0001c0004t0036 a0001c0034t0008 a0002c0002t0013 a0002c0009t0083 a0002c0009t0084 a0002c0027t0001 a0003c0001t0001 a0003c0001t0003 a0003c0001t0043 a0003c0001t0051 a0013c0033t0009	a0001c0003t0003g0224 a0001c0004t0036g0237 a0001c0034t0008g0032 others(12): Show a0001c0003t0003g0224 a0001c0004t0036g0237 a0001c0034t0008g0032 a0002c0002t0013g0169 a0002c0009t0083g0269 a0002c0009t0084g0271 a0002c0027t0001g0252 a0003c0001t0001g0066 a0003c0001t0001g0192 a0003c0001t0001g0216 a0003c0001t0001g0221 a0003c0001t0003g0002 a0003c0001t0043g0049 a0003c0001t0051g0217 a0013c0033t0009g0057	16	268	0.0597	-50	c.484 others(67): Show c.484+9506_484+9555delACTGAGGGAGGTGACAGGAGGGTGGCTG AGGAGGAGGTGACAGGAGGGTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SEC14L3_chr22_30454229_30477017	30454938	AATATATT others(43): Show AATATATTATTATATATCATATAATAGATATATAATATATTATTATATAT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	452	0.0022	-50	c.50 others(61): Show c.5033_*5082delAATATATAATAATATATTATATATCTATTATATG ATATATAATAATATAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4290		chr22	TogoVar
SEC24A_chr5_134643785_134732909	134667273	CTTTTGGA others(43): Show CTTTTGGAGGAGAATTACTACTTTTCTTGACATGATGTTAGAATGTTAGG A	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0304 a0001c0001t0007g0304	1	316	0.0032	-50	c.739 others(65): Show c.739+278_739+327delTTTTGGAGGAGAATTACTACTTTTCTTGAC ATGATGTTAGAATGTTAGGA	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	3/22			chr5	TogoVar
SEC63_chr6_107862756_107963208	107934820	GCCAGCTG others(43): Show GCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAG C	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19064.hp1 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(42): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0002t0007 a0001c0003t0006 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0014 a0001c0012t0001 a0002c0004t0003 a0003c0007t0042	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0059 others(223): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0208 a0001c0001t0001g0226 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0074 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0106 a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0206 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0213 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0217 a0001c0001t0006g0219 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0279 a0001c0001t0007g0045 a0001c0001t0008g0015 a0001c0001t0008g0016 a0001c0001t0008g0018 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0055 a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0095 a0001c0001t0009g0097 a0001c0001t0009g0112 a0001c0001t0009g0175 a0001c0001t0010g0083 a0001c0001t0010g0084 a0001c0001t0010g0087 a0001c0001t0010g0088 a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0012g0013 a0001c0001t0012g0014 a0001c0001t0014g0315 a0001c0001t0014g0318 a0001c0001t0016g0176 a0001c0001t0016g0177 a0001c0001t0016g0178 a0001c0001t0017g0316 a0001c0001t0017g0317 a0001c0001t0017g0319 a0001c0001t0020g0019 a0001c0001t0020g0020 a0001c0001t0022g0132 a0001c0001t0022g0135 a0001c0001t0023g0103 a0001c0001t0023g0133 a0001c0001t0024g0056 a0001c0001t0024g0057 a0001c0001t0027g0017 a0001c0001t0029g0207 a0001c0001t0030g0179 a0001c0001t0031g0096 a0001c0001t0032g0314 a0001c0001t0033g0313 a0001c0001t0034g0124 a0001c0001t0035g0085 a0001c0001t0036g0068 a0001c0001t0037g0251 a0001c0001t0038g0086 a0001c0001t0039g0141 a0001c0001t0040g0082 a0001c0001t0041g0064 a0001c0001t0043g0065 a0001c0001t0044g0145 a0001c0001t0045g0216 a0001c0001t0046g0167 a0001c0001t0047g0073 a0001c0001t0048g0078 a0001c0002t0007g0048 a0001c0002t0007g0049 a0001c0002t0007g0050 a0001c0002t0007g0051 a0001c0002t0007g0052 a0001c0002t0007g0053 a0001c0002t0007g0054 a0001c0003t0006g0204 a0001c0003t0006g0218 a0001c0003t0006g0220 a0001c0006t0001g0157 a0001c0008t0001g0152 a0001c0009t0001g0275 a0001c0010t0001g0116 a0001c0011t0014g0205 a0001c0012t0001g0321 a0002c0004t0003g0159 a0002c0004t0003g0171 a0003c0007t0042g0320	228	330	0.6909	-50	c.125 others(67): Show c.125-5356_125-5307delGCTGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCAGACGGGGCAGCTGG	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SEMA3E_chr7_83358238_83654139	83389851	ATATACAC others(43): Show ATATACACGTATATATTACATGTATACATATATACACGTATATATTACAT G	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	223	0.0045	-50	c.166 others(69): Show c.1667+2654_1667+2703delCATGTAATATATACGTGTATATATGT ATACATGTAATATATACGTGTATA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SENP3_chr17_7556919_7576969	7571862	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATAAA A	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp2 NA18967.hp1 NA19004.hp2 others(1): Show HG01516.hp2 NA18967.hp1 NA19004.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0043 a0001c0001t0005g0006 a0001c0001t0005g0043	4	443	0.0090	-50	c.38 others(59): Show c.387_*436delTATATATATATATATATATATATATATATATATATA TATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	387	INFO_REALIGN_3_PRIME	chr17	TogoVar
SERGEF_chr11_17783048_18018047	17896853	TAAGGGAA others(43): Show TAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG G	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	102	0.0098	-50	c.101 others(71): Show c.1012-18659_1012-18610delCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERPINA11_chr14_94437464_94457800	94449461	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTGTCTGTCTGTCTTTCTTTCTCTTTCTTT T	C C	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	448	0.0022	-50	c.-3- others(63): Show c.-3-734_-3-685delAAAAGAAAGAGAAAGAAAGACAGACAGACAGA AAGAAAGAAAGAAAGAAA	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SEZ6L_chr22_26164462_26388596	26294883	TTCTTTCT others(43): Show TTCTTTCTTGCTTGCTTGCTTGCTTCCTGCTTTCTTGCTTCTTTCTCTTT C	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0193 a0002c0022t0001g0193	1	238	0.0042	-50	c.969 others(65): Show c.969+467_969+516delGCTTGCTTGCTTGCTTCCTGCTTTCTTGCT TCTTTCTCTTTCTCTTTCTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGF29_chr16_28548920_28596790	28564695	ATGTATAT others(43): Show ATGTATATATATACATATATATGTATATATATACATATATATGTATATAT G	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp2 NA20300.hp1 HG01884.hp1 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292	3	283	0.0106	-50	c.-16 others(69): Show c.-16+10600_-16+10649delGTATATATATACATATATATGTATAT ATATACATATATATGTATATATGT	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGIP1_chr1_66529153_66756139	66660002	GACAGACA others(43): Show GACAGACAGACAGACAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAG A	G G	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0196 a0001c0008t0002g0196	1	299	0.0033	-50	c.460 others(65): Show c.460-509_460-460delCAGACAGACAGACAGGAAGGAAGGAAGGAA GGAAGGAAAGAAAGAAAGAA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGSM2_chr17_2332501_2386054	2355387	TGGGGCAG others(43): Show TGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTT G	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(54): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG01515.hp2 HG01516.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02523.hp1 HG02698.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18990.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19070.hp1 NA19072.hp1 NA19080.hp2 NA19081.hp2 NA19086.hp2 NA19089.hp2 NA20752.hp2	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0017 a0022	a0001c0001 a0001c0003 a0001c0039 others(4): Show a0001c0001 a0001c0003 a0001c0039 a0002c0002 a0009c0014 a0017c0018 a0022c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0039t0001 a0002c0002t0001 a0009c0014t0001 a0017c0018t0001 a0022c0038t0008	a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(53): Show a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0255 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0374 a0001c0001t0002g0173 a0001c0001t0002g0203 a0001c0001t0002g0226 a0001c0001t0002g0247 a0001c0001t0002g0269 a0001c0001t0007g0169 a0001c0001t0007g0180 a0001c0001t0008g0171 a0001c0001t0012g0321 a0001c0003t0001g0105 a0001c0003t0001g0114 a0001c0003t0002g0104 a0001c0003t0002g0115 a0001c0003t0002g0250 a0001c0039t0001g0232 a0002c0002t0001g0222 a0009c0014t0001g0141 a0017c0018t0001g0110 a0022c0038t0008g0212	57	333	0.1712	-50	c.134 others(67): Show c.134-6245_134-6196delCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGAGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355397	GCCCCATA others(43): Show GCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTTGGGGGAAGGG A	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	304	0.0033	-50	c.134 others(67): Show c.134-6240_134-6191delGCCCCATATCTTAGAATGGTGGAATCGG GGTGTAAGAGTTGGGGGAAGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23			chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355532	GGTTGGGG others(43): Show GGTTGGGGGAAGGGACCCCATATCTTAGAATGGTAGAATCGGGGTGTAAG A	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(55): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01361.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02135.hp2 HG02486.hp2 HG02523.hp2 HG02698.hp2 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18972.hp2 NA18978.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19056.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2	a0001 a0010 a0014 others(3): Show a0001 a0010 a0014 a0017 a0023 a0027	a0001c0001 a0001c0003 a0001c0020 others(6): Show a0001c0001 a0001c0003 a0001c0020 a0001c0029 a0010c0023 a0014c0040 a0017c0018 a0023c0033 a0027c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0003t0002 a0001c0020t0001 a0001c0029t0001 a0010c0023t0001 a0014c0040t0001 a0017c0018t0001 a0023c0033t0001 a0027c0019t0001	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0053 others(53): Show a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0161 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0294 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0324 a0001c0001t0001g0354 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0003g0317 a0001c0001t0003g0327 a0001c0001t0010g0015 a0001c0001t0010g0257 a0001c0001t0013g0315 a0001c0001t0013g0320 a0001c0001t0017g0363 a0001c0001t0021g0325 a0001c0003t0002g0115 a0001c0003t0002g0215 a0001c0020t0001g0285 a0001c0029t0001g0356 a0010c0023t0001g0366 a0014c0040t0001g0216 a0017c0018t0001g0110 a0023c0033t0001g0198 a0027c0019t0001g0018	58	411	0.1411	-50	c.134 others(67): Show c.134-6071_134-6022delAGAATCGGGGTGTAAGAGTTGGGGGAAG GGACCCCATATCTTAGAATGGT	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355635	TGGGGAAG others(43): Show TGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTT G	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	355	0.0028	-50	c.134 others(67): Show c.134-5956_134-5907delAGTTGGGGGAAGGGACCCCATATCTTAG AATGGTGGAATCGGGGTGTAAG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355833	TGGGGGAA others(43): Show TGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGT T	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(12): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG01346.hp2 HG02004.hp2 HG02040.hp1 HG02083.hp2 NA18946.hp1 NA18951.hp2 NA18954.hp2 NA18978.hp1 NA19009.hp1 NA19079.hp2 NA19084.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0032 a0004c0010 a0001c0001 a0001c0032 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0032t0001 a0004c0010t0001	a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 others(12): Show a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0003g0200 a0001c0001t0007g0160 a0001c0001t0008g0206 a0001c0001t0011g0112 a0001c0032t0001g0185 a0004c0010t0001g0113	15	386	0.0389	-50	c.134 others(67): Show c.134-5799_134-5750delGAAGGGACCCCATATCTTAGAATGGTGG AATCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355929	GGTTGGGG others(43): Show GGTTGGGGGAAGGGACCCCATATCTTAGAATGGTAGAATCGGGGTGTAAG A	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG03669.hp1 others(11): Show HG02055.hp1 HG02622.hp1 HG03669.hp1 HG04199.hp1 HG04204.hp2 NA18947.hp2 NA18949.hp1 NA18965.hp1 NA18966.hp1 NA19011.hp2 NA19070.hp1 NA19072.hp1 NA19080.hp2 NA19085.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0030 a0001c0001 a0013c0030	a0001c0001t0001 a0001c0001t0002 a0013c0030t0024 a0001c0001t0001 a0001c0001t0002 a0013c0030t0024	a0001c0001t0001g0111 a0001c0001t0001g0255 a0001c0001t0001g0293 others(11): Show a0001c0001t0001g0111 a0001c0001t0001g0255 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0002g0023 a0001c0001t0002g0173 a0001c0001t0002g0203 a0001c0001t0002g0226 a0001c0001t0002g0236 a0001c0001t0002g0247 a0001c0001t0002g0269 a0013c0030t0024g0145	14	418	0.0335	-50	c.134 others(67): Show c.134-5674_134-5625delAGAATCGGGGTGTAAGAGTTGGGGGAAG GGACCCCATATCTTAGAATGGT	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356032	TGGGGAAG others(43): Show TGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTT G	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG01106.hp2 others(9): Show HG00597.hp2 HG00733.hp1 HG01106.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp2 NA18957.hp2 NA18975.hp2 NA18984.hp1 NA18992.hp2 NA18993.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0119 a0001c0001t0001g0167 a0001c0001t0001g0172 others(9): Show a0001c0001t0001g0119 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0220 a0001c0001t0001g0326 a0001c0001t0001g0391 a0001c0003t0001g0107 a0001c0003t0002g0100 a0001c0003t0002g0108 a0001c0003t0002g0109	12	386	0.0311	-50	c.134 others(67): Show c.134-5559_134-5510delAGTTGGGGGAAGGGACCCCATATCTTAG AATGGTGGAATCGGGGTGTAAG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3PXD2A_chr10_103589027_103860576	103810907	GACACACA others(43): Show GACACACACACACGGAGACACACACATGGACACAGGCGCGCGCGCGCACA C	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02083.hp1 HG01109.hp2 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0115 a0001c0014t0006 a0001c0002t0115 a0001c0014t0006	a0001c0002t0115g0132 a0001c0014t0006g0111 a0001c0002t0115g0132 a0001c0014t0006g0111	2	247	0.0081	-50	c.73- others(65): Show c.73-9595_73-9546delGTGTGCGCGCGCGCGCCTGTGTCCATGTGT GTGTCTCCGTGTGTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SHANK1_chr19_50654255_50724802	50699962	GGGCTCGG others(43): Show GGGCTCGGGGCATTGGAGGATTGGAGGGATCGGGGCATTGGAGGGTTGGA A	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0064 a0001c0016t0064	a0001c0016t0064g0042 a0001c0016t0064g0042	1	314	0.0032	-50	c.174 others(69): Show c.1748-2056_1748-2007delTTCCAACCCTCCAATGCCCCGATCCC TCCAATCCTCCAATGCCCCGAGCC	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	12/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50699990	ATCGGGGC others(43): Show ATCGGGGCATTGGAGGGTTGGAAGGCTCGGGGCATTGGAGGATTGGAGGG C	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp2 others(97): Show HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02027.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18950.hp2 NA18960.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19060.hp2 NA19067.hp1 NA19074.hp2 NA19084.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0010 a0014 a0015 a0016 a0017	a0001c0002 a0001c0003 a0001c0004 others(17): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0001c0020 a0001c0038 a0002c0001 a0002c0041 a0003c0005 a0003c0006 a0005c0022 a0010c0036 a0014c0030 a0015c0025 a0016c0029 a0017c0037	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(73): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0016 a0001c0002t0030 a0001c0002t0037 a0001c0002t0040 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0105 a0001c0003t0004 a0001c0003t0010 a0001c0003t0012 a0001c0003t0017 a0001c0003t0023 a0001c0003t0025 a0001c0003t0035 a0001c0003t0044 a0001c0003t0065 a0001c0003t0067 a0001c0003t0075 a0001c0003t0076 a0001c0003t0083 a0001c0003t0099 a0001c0003t0102 a0001c0003t0110 a0001c0004t0007 a0001c0004t0008 a0001c0004t0081 a0001c0007t0012 a0001c0009t0007 a0001c0011t0001 a0001c0013t0024 a0001c0014t0008 a0001c0014t0087 a0001c0020t0008 a0001c0038t0094 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0008 a0002c0001t0010 a0002c0001t0013 a0002c0001t0015 a0002c0001t0039 a0002c0001t0046 a0002c0001t0047 a0002c0001t0049 a0002c0001t0055 a0002c0001t0060 a0002c0001t0070 a0002c0001t0086 a0002c0001t0088 a0002c0001t0092 a0002c0001t0106 a0002c0041t0013 a0003c0005t0003 a0003c0005t0014 a0003c0005t0043 a0003c0006t0005 a0003c0006t0108 a0005c0022t0001 a0010c0036t0002 a0014c0030t0072 a0015c0025t0004 a0016c0029t0001 a0017c0037t0005	a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0120 others(97): Show a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0120 a0001c0002t0001g0197 a0001c0002t0001g0201 a0001c0002t0001g0261 a0001c0002t0002g0294 a0001c0002t0003g0199 a0001c0002t0003g0277 a0001c0002t0005g0115 a0001c0002t0005g0165 a0001c0002t0006g0238 a0001c0002t0006g0275 a0001c0002t0007g0269 a0001c0002t0009g0098 a0001c0002t0009g0196 a0001c0002t0010g0200 a0001c0002t0011g0087 a0001c0002t0014g0202 a0001c0002t0016g0112 a0001c0002t0030g0133 a0001c0002t0037g0007 a0001c0002t0040g0010 a0001c0002t0050g0028 a0001c0002t0051g0027 a0001c0002t0052g0026 a0001c0002t0105g0304 a0001c0003t0004g0099 a0001c0003t0004g0100 a0001c0003t0004g0193 a0001c0003t0010g0173 a0001c0003t0012g0070 a0001c0003t0017g0088 a0001c0003t0023g0080 a0001c0003t0025g0009 a0001c0003t0035g0004 a0001c0003t0044g0011 a0001c0003t0065g0046 a0001c0003t0067g0045 a0001c0003t0075g0125 a0001c0003t0076g0289 a0001c0003t0083g0086 a0001c0003t0099g0308 a0001c0003t0102g0303 a0001c0003t0110g0313 a0001c0004t0007g0065 a0001c0004t0008g0051 a0001c0004t0081g0084 a0001c0007t0012g0079 a0001c0009t0007g0270 a0001c0011t0001g0278 a0001c0013t0024g0123 a0001c0013t0024g0137 a0001c0014t0008g0232 a0001c0014t0087g0242 a0001c0020t0008g0260 a0001c0038t0094g0287 a0002c0001t0001g0116 a0002c0001t0002g0117 a0002c0001t0002g0175 a0002c0001t0002g0176 a0002c0001t0002g0213 a0002c0001t0002g0276 a0002c0001t0002g0290 a0002c0001t0002g0291 a0002c0001t0002g0293 a0002c0001t0002g0296 a0002c0001t0003g0164 a0002c0001t0005g0092 a0002c0001t0008g0265 a0002c0001t0008g0266 a0002c0001t0008g0288 a0002c0001t0010g0263 a0002c0001t0010g0264 a0002c0001t0013g0122 a0002c0001t0013g0256 a0002c0001t0015g0205 a0002c0001t0039g0015 a0002c0001t0046g0012 a0002c0001t0047g0025 a0002c0001t0049g0024 a0002c0001t0055g0033 a0002c0001t0060g0038 a0002c0001t0070g0047 a0002c0001t0086g0149 a0002c0001t0088g0281 a0002c0001t0092g0217 a0002c0001t0106g0311 a0002c0041t0013g0255 a0003c0005t0003g0114 a0003c0005t0014g0222 a0003c0005t0043g0022 a0003c0006t0005g0280 a0003c0006t0108g0309 a0005c0022t0001g0094 a0010c0036t0002g0295 a0014c0030t0072g0074 a0015c0025t0004g0282 a0016c0029t0001g0206 a0017c0037t0005g0121	100	314	0.3185	-50	c.174 others(69): Show c.1748-2084_1748-2035delGCCCTCCAATCCTCCAATGCCCCGAG CCTTCCAACCCTCCAATGCCCCGA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	12/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50700018	GGGGCATT others(43): Show GGGGCATTGGAGGATTGGAGGGCTCGGGGCATTGGAGGGTTGGAAGGCTC A	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG00738.hp1 others(55): Show HG00140.hp2 HG00733.hp1 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01981.hp2 HG02055.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18986.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0007 a0009 a0012	a0001c0002 a0001c0003 a0001c0004 others(13): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0015 a0001c0018 a0001c0019 a0001c0032 a0002c0001 a0003c0005 a0003c0006 a0006c0027 a0007c0035 a0009c0026 a0012c0031	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(46): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0030 a0001c0002t0031 a0001c0002t0041 a0001c0002t0054 a0001c0002t0084 a0001c0002t0095 a0001c0002t0104 a0001c0003t0004 a0001c0003t0007 a0001c0003t0011 a0001c0003t0012 a0001c0003t0022 a0001c0003t0080 a0001c0003t0082 a0001c0003t0111 a0001c0004t0017 a0001c0004t0077 a0001c0004t0096 a0001c0007t0007 a0001c0009t0004 a0001c0009t0007 a0001c0015t0001 a0001c0018t0003 a0001c0018t0078 a0001c0019t0020 a0001c0032t0018 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0007 a0002c0001t0011 a0002c0001t0019 a0002c0001t0024 a0002c0001t0027 a0002c0001t0038 a0002c0001t0066 a0002c0001t0089 a0003c0005t0003 a0003c0006t0001 a0003c0006t0012 a0003c0006t0045 a0006c0027t0011 a0007c0035t0069 a0009c0026t0061 a0012c0031t0029	a0001c0002t0001g0191 a0001c0002t0001g0251 a0001c0002t0002g0221 others(54): Show a0001c0002t0001g0191 a0001c0002t0001g0251 a0001c0002t0002g0221 a0001c0002t0006g0236 a0001c0002t0009g0226 a0001c0002t0009g0227 a0001c0002t0030g0243 a0001c0002t0031g0212 a0001c0002t0031g0229 a0001c0002t0041g0017 a0001c0002t0054g0032 a0001c0002t0084g0231 a0001c0002t0095g0072 a0001c0002t0104g0307 a0001c0003t0004g0057 a0001c0003t0004g0081 a0001c0003t0004g0225 a0001c0003t0004g0228 a0001c0003t0007g0055 a0001c0003t0007g0089 a0001c0003t0011g0052 a0001c0003t0012g0053 a0001c0003t0022g0248 a0001c0003t0080g0143 a0001c0003t0082g0174 a0001c0003t0111g0314 a0001c0004t0017g0250 a0001c0004t0077g0249 a0001c0004t0096g0297 a0001c0007t0007g0218 a0001c0009t0004g0247 a0001c0009t0007g0244 a0001c0015t0001g0102 a0001c0018t0003g0127 a0001c0018t0078g0124 a0001c0019t0020g0235 a0001c0032t0018g0177 a0002c0001t0001g0059 a0002c0001t0002g0096 a0002c0001t0005g0110 a0002c0001t0005g0220 a0002c0001t0007g0224 a0002c0001t0011g0002 a0002c0001t0019g0223 a0002c0001t0024g0245 a0002c0001t0027g0030 a0002c0001t0038g0006 a0002c0001t0066g0044 a0002c0001t0089g0219 a0003c0005t0003g0101 a0003c0006t0001g0246 a0003c0006t0012g0090 a0003c0006t0045g0008 a0006c0027t0011g0230 a0007c0035t0069g0043 a0009c0026t0061g0040 a0012c0031t0029g0130	58	314	0.1847	-50	c.174 others(69): Show c.1748-2112_1748-2063delTGAGCCTTCCAACCCTCCAATGCCCC GAGCCCTCCAATCCTCCAATGCCC	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	12/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50707876	TTTTTCTT others(43): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT C	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0195 a0002c0001t0001g0195	1	36	0.0278	-50	c.107 others(69): Show c.1078-3412_1078-3363delGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHC2_chr19_411589_466033	427466	ACACGGCA others(43): Show ACACGGCACAGGGAAGGGGAATTGCACACGGCACAGGGAAGGGGAATTGC G	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	210	0.0048	-50	c.117 others(69): Show c.1175-2285_1175-2236delCGCAATTCCCCTTCCCTGTGCCGTGT GCAATTCCCCTTCCCTGTGCCGTG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC2_chr19_411589_466033	430034	CCCCAACG others(43): Show CCCCAACGTGCACGGAAACCTAATACCGTGTGGATGACGCAGTACCTATA T	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0014 a0005c0009t0014	a0005c0009t0014g0036 a0005c0009t0014g0036	1	210	0.0048	-50	c.117 others(67): Show c.1174+600_1174+649delATATAGGTACTGCGTCATCCACACGGTA TTAGGTTTCCGTGCACGTTGGG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC2_chr19_411589_466033	431440	TGGCGCTT others(43): Show TGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGG C	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	210	0.0048	-50	c.111 others(67): Show c.1111-743_1111-694delGCCCGGCCTCCTCTATCTCTCACTCACG ATCTCACTCACGATGAAGCGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHISA6_chr17_11236213_11569063	11526880	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(88): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00639.hp1 HG00738.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18970.hp1 NA18970.hp2 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA18999.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19084.hp1 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0023 a0001c0002t0025 a0001c0003t0004 a0001c0003t0007 a0001c0003t0011 a0001c0003t0018 a0001c0003t0035 a0001c0013t0029	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 others(88): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0004g0014 a0001c0001t0004g0032 a0001c0001t0004g0042 a0001c0001t0004g0054 a0001c0001t0004g0058 a0001c0001t0004g0082 a0001c0001t0004g0108 a0001c0001t0004g0112 a0001c0001t0004g0130 a0001c0001t0004g0161 a0001c0001t0004g0168 a0001c0001t0004g0187 a0001c0001t0006g0035 a0001c0001t0006g0162 a0001c0001t0006g0170 a0001c0001t0006g0181 a0001c0001t0006g0186 a0001c0001t0007g0002 a0001c0001t0007g0072 a0001c0001t0007g0119 a0001c0001t0008g0049 a0001c0001t0008g0087 a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0126 a0001c0001t0010g0064 a0001c0001t0010g0159 a0001c0001t0010g0182 a0001c0001t0011g0068 a0001c0001t0018g0004 a0001c0001t0020g0078 a0001c0001t0020g0128 a0001c0001t0022g0070 a0001c0001t0024g0034 a0001c0001t0028g0143 a0001c0001t0031g0117 a0001c0001t0032g0036 a0001c0001t0050g0160 a0001c0002t0001g0095 a0001c0002t0001g0101 a0001c0002t0001g0140 a0001c0002t0001g0174 a0001c0002t0002g0090 a0001c0002t0003g0094 a0001c0002t0004g0092 a0001c0002t0006g0097 a0001c0002t0007g0018 a0001c0002t0007g0103 a0001c0002t0010g0096 a0001c0002t0010g0099 a0001c0002t0011g0192 a0001c0002t0023g0001 a0001c0002t0025g0189 a0001c0003t0004g0139 a0001c0003t0007g0104 a0001c0003t0011g0106 a0001c0003t0011g0121 a0001c0003t0018g0146 a0001c0003t0035g0180 a0001c0013t0029g0021	91	96	0.9479	-50	c.896 others(69): Show c.896-25009_896-24960delATATATATATATATATATATATATAT ATATATATATATATATATATATAT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	13037088	CCACACAC others(43): Show CCACACACACACACACACACAGACACACACACACACACACACACACACAC A	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0068 a0001c0001t0074g0068	1	202	0.0050	-50	c.691 others(71): Show c.691+120293_691+120342delAGACACACACACACACACACACAC ACACACACACACACACACACACACAC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHROOM3_chr4_76430229_76788253	76608673	TAGCACAG others(43): Show TAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCA C	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02723.hp1 others(3): Show HG02258.hp2 HG02615.hp1 HG02723.hp1 HG03130.hp2 HG03209.hp2 NA20129.hp2	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0001c0015 a0003c0002 others(1): Show a0001c0001 a0001c0015 a0003c0002 a0015c0025	a0001c0001t0001 a0001c0001t0002 a0001c0015t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0015t0009 a0003c0002t0001 a0015c0025t0006	a0001c0001t0001g0052 a0001c0001t0002g0055 a0001c0015t0009g0059 others(3): Show a0001c0001t0001g0052 a0001c0001t0002g0055 a0001c0015t0009g0059 a0001c0015t0009g0111 a0003c0002t0001g0113 a0015c0025t0006g0095	6	183	0.0328	-50	c.323 others(69): Show c.323+52920_323+52969delCAGCACAGCACAGCACAGCACAGCAC AGCACAGCACAGCACAGCACAGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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