Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

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No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CEP76_chr18_12667625_12707723	12669052	TTTTTTTG others(64): Show TTTTTTTGAGACAGAGTTTCACTGTTTCCCAAGCTGGAGTGCAGTGGTGT GATCTCAGCTCACGGCAACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01981.hp2 HG02683.hp2 HG00735.hp2 HG01981.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0165 a0001c0001t0001g0008 a0001c0001t0001g0165	3	380	0.0079	-71	c.42 others(82): Show c.4242_*4312delGAGGTTGCCGTGAGCTGAGATCACACCACTGCAC TCCAGCTTGGGAAACAGTGAAACTCTGTCTCAAAAAA	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		3572		chr18	TogoVar
CFAP43_chr10_104124888_104237364	104125320	TAGCCATA others(64): Show TAGCCATAGAACTCAAGTTGAGTGACATTGTAACCATTCTACATATGACC ATCCTACTTTTTCCTAGATAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	306	0.0033	-71	c.47 others(82): Show c.4748_*4818delTCTATCTAGGAAAAAGTAGGATGGTCATATGTAG AATGGTTACAATGTCACTCAACTTGAGTTCTATGGCT	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding		4567		chr10	TogoVar
CFAP54_chr12_96484577_96880555	96664690	TATATATC others(64): Show TATATATCTATATATATATATATATCTATATATATCTATATATATATATC TATATATATATATATCTATATA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0007 a0004c0005t0001g0007	1	268	0.0037	-71	c.556 others(88): Show c.5563+759_5563+829delATATATCTATATATATATATATATCTAT ATATATCTATATATATATATCTATATATATATATATCTATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67			chr12	TogoVar
CFAP74_chr1_1916957_2008786	1981492	GCAGGACA others(64): Show GCAGGACACCCAACCACGGACAGACATGGGGGCACGCAGGACACACAGCC GCGGACAGACACGGGGGGCACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0063 a0063	a0063c0040 a0063c0040	a0063c0040t0001 a0063c0040t0001	a0063c0040t0001g0134 a0063c0040t0001g0134	1	278	0.0036	-71	c.500 others(88): Show c.500+3823_500+3893delTGTGCCCCCCGTGTCTGTCCGCGGCTGT GTGTCCTGCGTGCCCCCATGTCTGTCCGTGGTTGGGTGTCCTG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1981904	CGGGGGCA others(64): Show CGGGGGCACGCAGGACACACAGCCGCGGACAGACACGGGGGCACGCAGGA CACACAGCCGCGGACAGACACG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA20129.hp1 HG02109.hp2 NA20129.hp1	a0002 a0002	a0002c0004 a0002c0076 a0002c0004 a0002c0076	a0002c0004t0002 a0002c0076t0002 a0002c0004t0002 a0002c0076t0002	a0002c0004t0002g0070 a0002c0076t0002g0069 a0002c0004t0002g0070 a0002c0076t0002g0069	2	278	0.0072	-71	c.500 others(88): Show c.500+3411_500+3481delCGTGTCTGTCCGCGGCTGTGTGTCCTGC GTGCCCCCGTGTCTGTCCGCGGCTGTGTGTCCTGCGTGCCCCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CHST8_chr19_33616953_33778506	33757462	GAAAGAAA others(64): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	254	0.0039	-71	c.131 others(90): Show c.131-13948_131-13878delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHTF18_chr16_783620_803074	784396	GCACGGTG others(64): Show GCACGGTGGCAGCTGCCTCCAGTCGGGCCCCGGTGGGGACTCCGGGTCTG GAACCCGCGTCTCGGCTGAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	428	0.0023	-71	c.-42 others(82): Show c.-4288_-4218delCACGGTGGCAGCTGCCTCCAGTCGGGCCCCGGTG GGGACTCCGGGTCTGGAACCCGCGTCTCGGCTGAGGA	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding		4223		chr16	TogoVar
CLEC3B_chr3_45021303_45041071	45031803	ACAGACTC others(64): Show ACAGACTCACAATACTGATGACTATTTACATGTGAGCCCACTACATTCTG GCACTGTTCTTGATGCTTGATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00544.hp1 others(249): Show HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0002g0003 a0001c0001t0003g0001 a0001c0003t0001g0003 a0001c0003t0001g0004 a0001c0003t0001g0040 a0001c0003t0001g0041 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0025 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0002g0006 a0002c0002t0002g0014 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0026 a0002c0002t0002g0030 a0002c0002t0002g0037 a0002c0002t0002g0038 a0003c0004t0001g0001	252	376	0.6702	-71	c.208 others(87): Show c.208+952_208+1022delGACTCACAATACTGATGACTATTTACATG TGAGCCCACTACATTCTGGCACTGTTCTTGATGCTTGATGCA	CLEC3B	ENSG00000163815.6	transcript	ENST00000296130.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL18A1_chr21_45400165_45518720	45489924	CTCCCCGA others(64): Show CTCCCCGACTTCCCCCTCCCCCACTTCCCCCTGCCCCACACCTCCTCCCC CACACCCTCCCCCACTTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0083 a0002c0083	a0002c0083t0001 a0002c0083t0001	a0002c0083t0001g0237 a0002c0083t0001g0237	1	292	0.0034	-71	c.196 others(88): Show c.1960-345_1960-275delGACTTCCCCCTCCCCCACTTCCCCCTGC CCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178294357	GAGCTCCC others(64): Show GAGCTCCCTCCCCAAATCACTACCGAACTCCCTCCCCAAATCACTACCGA GCTCCCTCCCAAATCACTACCC	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19056.hp2 NA19011.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0197 a0001c0001t0004g0184 a0001c0001t0004g0197	2	236	0.0085	-71	c.407 others(88): Show c.407-4059_407-3989delGGGTAGTGATTTGGGAGGGAGCTCGGTA GTGATTTGGGGAGGGAGTTCGGTAGTGATTTGGGGAGGGAGCT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489654	TTTCTTTC others(64): Show TTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTT TCTTTCTTTCATTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0089 a0001c0005t0012g0089	1	174	0.0058	-71	c.385 others(90): Show c.385+41869_385+41939delTCTTTCTTCCTTCCTTCCTTCCTTCC TTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(64): Show TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTCTT TCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02602.hp1 HG02698.hp2 others(1): Show HG01074.hp1 HG02602.hp1 HG02698.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0002 a0001c0001t0005 a0001c0002t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0006 a0001c0012t0010	a0001c0001t0002g0132 a0001c0001t0005g0137 a0001c0002t0006g0003 others(1): Show a0001c0001t0002g0132 a0001c0001t0005g0137 a0001c0002t0006g0003 a0001c0012t0010g0027	4	174	0.0230	-71	c.385 others(90): Show c.385+41926_385+41996delCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTTGTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A3_chr2_227159624_227319792	227193884	GAGGAAGG others(64): Show GAGGAAGGAAGGAAGGAAGGGGAGAGAAGGAGAGGAGAAGGAGAAGGGAA ATAAGGAGAGAGGGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG01070.hp1 others(43): Show HG00099.hp2 HG00423.hp2 HG01070.hp1 HG01071.hp2 HG01261.hp1 HG02015.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02486.hp2 HG02602.hp2 HG02647.hp2 HG02886.hp1 HG02970.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18948.hp2 NA18953.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18999.hp2 NA19005.hp2 NA19056.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0018 a0022 a0026	a0001c0001 a0002c0004 a0002c0007 others(16): Show a0001c0001 a0002c0004 a0002c0007 a0002c0027 a0003c0002 a0004c0003 a0005c0005 a0005c0020 a0006c0010 a0006c0013 a0006c0034 a0007c0006 a0008c0009 a0009c0008 a0010c0014 a0012c0022 a0018c0028 a0022c0052 a0026c0049	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 others(24): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0002c0004t0003 a0002c0004t0006 a0002c0004t0013 a0002c0007t0001 a0002c0027t0003 a0003c0002t0001 a0003c0002t0003 a0004c0003t0003 a0004c0003t0004 a0005c0005t0002 a0005c0005t0009 a0005c0020t0002 a0006c0010t0006 a0006c0013t0009 a0006c0034t0006 a0007c0006t0005 a0008c0009t0001 a0009c0008t0001 a0010c0014t0001 a0010c0014t0002 a0012c0022t0001 a0018c0028t0001 a0022c0052t0001 a0026c0049t0001	a0001c0001t0001g0117 a0001c0001t0001g0142 a0001c0001t0001g0143 others(43): Show a0001c0001t0001g0117 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0170 a0001c0001t0002g0118 a0001c0001t0002g0153 a0001c0001t0002g0163 a0001c0001t0002g0173 a0001c0001t0002g0191 a0002c0004t0001g0154 a0002c0004t0003g0259 a0002c0004t0006g0039 a0002c0004t0006g0049 a0002c0004t0013g0067 a0002c0007t0001g0019 a0002c0007t0001g0310 a0002c0027t0003g0342 a0003c0002t0001g0042 a0003c0002t0003g0207 a0003c0002t0003g0269 a0004c0003t0003g0251 a0004c0003t0004g0192 a0004c0003t0004g0302 a0005c0005t0002g0179 a0005c0005t0009g0116 a0005c0020t0002g0078 a0005c0020t0002g0079 a0006c0010t0006g0058 a0006c0010t0006g0072 a0006c0013t0009g0041 a0006c0034t0006g0070 a0007c0006t0005g0133 a0007c0006t0005g0283 a0008c0009t0001g0195 a0008c0009t0001g0217 a0008c0009t0001g0282 a0008c0009t0001g0309 a0009c0008t0001g0224 a0010c0014t0001g0023 a0010c0014t0001g0164 a0010c0014t0002g0021 a0012c0022t0001g0069 a0018c0028t0001g0013 a0022c0052t0001g0325 a0026c0049t0001g0272	46	344	0.1337	-71	c.87+ others(88): Show c.87+29104_87+29174delGGAGAAGGAGAAGGGAAATAAGGAGAGA GGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGGAGAGAAGGAGA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL6A1_chr21_45976770_46010048	45978688	CACGTCTA others(64): Show CACGTCTATGAACACGCTCACGGTACGGTGCACAGAGCAGGCGACAGCAC GTCTATAAACACACTTATAGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	128	0.0078	-71	c.-31 others(82): Show c.-3162_-3092delACGTCTATGAACACGCTCACGGTACGGTGCACAG AGCAGGCGACAGCACGTCTATAAACACACTTATAGCA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3081		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987766	GGGGGTCC others(64): Show GGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGG GAGTCCAGATGGAGGGGATGGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG01106.hp1 others(6): Show HG00280.hp1 HG00544.hp2 HG01106.hp1 HG01361.hp2 HG01978.hp1 HG02071.hp1 HG02071.hp2 NA19067.hp1 NA19079.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0035 a0006c0011 a0001c0001 a0001c0035 a0006c0011	a0001c0001t0002 a0001c0035t0002 a0006c0011t0002 a0001c0001t0002 a0001c0035t0002 a0006c0011t0002	a0001c0001t0002g0009 a0001c0001t0002g0094 a0001c0001t0002g0106 others(6): Show a0001c0001t0002g0009 a0001c0001t0002g0094 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0121 a0001c0035t0002g0010 a0006c0011t0002g0097 a0006c0011t0002g0110	9	128	0.0703	-71	c.804 others(86): Show c.804+140_804+210delGTCCAGATGGAGGGGACGGCGGGAGTCCAG ATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988071	GGGTCCAG others(64): Show GGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA GTCCAGATGGAGGGGACGGCGT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0002 a0013c0020t0002	a0013c0020t0002g0002 a0013c0020t0002g0002	1	128	0.0078	-71	c.804 others(86): Show c.804+437_804+507delTCGGGGCTCCAGATGGAGGGGACGGCGGGA GTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A6_chr3_130512177_130682042	130656361	AGTGGGTA others(64): Show AGTGGGTAGCTCCTCTCTGCAGACAGGGTCTCCTGATGAGTGTCTGGCTC TCAGCAGAGAGGAGGCCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0042 a0002c0002t0005g0042	1	264	0.0038	-71	c.573 others(90): Show c.5734-2293_5734-2223delACAGGGTCTCCTGATGAGTGTCTGGC TCTCAGCAGAGAGGAGGCCCTGGGGTGGGTAGCTCCTCTCTGCAG	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPSF2_chr14_92116969_92177145	92173314	TATATACA others(64): Show TATATACATATATATATACGTATATATATATGTATATATATATACGTATA TATATATGTATATATATACGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0244 a0001c0001t0011g0244	1	388	0.0026	-71	c.11 others(84): Show c.11571_*11641delATATACATATATATATACGTATATATATATGT ATATATATATACGTATATATATATGTATATATATACGTA	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1170		chr14	TogoVar
CPXM2_chr10_123740639_123896807	123857877	CACACTCA others(64): Show CACACTCACCCGTGACAGCGCACTCTGTGGTCAGGTGCTGATACTTGGTC CCACAGCCCATTCATAGACTTT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18990.hp1 NA19074.hp2 others(1): Show NA18962.hp1 NA18990.hp1 NA19074.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0082 a0001c0001t0001g0200 a0001c0004t0001g0076 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0200 a0001c0004t0001g0076 a0001c0004t0001g0199	4	288	0.0139	-71	c.513 others(88): Show c.513+4666_513+4736delAAAGTCTATGAATGGGCTGTGGGACCAA GTATCAGCACCTGACCACAGAGTGCGCTGTCACGGGTGAGTGT	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	3/13			chr10	TogoVar
CROCC2_chr2_240901336_240998311	240924620	GTCCCCAC others(64): Show GTCCCCACACTATCCCGGCCCCCCACACTACCCCGGCCCCCCACACTAAC CCAGCCCCCACACTGACCCGGC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02922.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03486.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0134 a0014c0014t0001g0135 a0014c0014t0001g0173 others(1): Show a0014c0014t0001g0134 a0014c0014t0001g0135 a0014c0014t0001g0173 a0014c0014t0001g0174	4	350	0.0114	-71	c.489 others(88): Show c.489-1103_489-1033delTCCCCACACTATCCCGGCCCCCCACACT ACCCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CRTAC1_chr10_97860000_98035621	97877401	ACTTTCAC others(64): Show ACTTTCACTTACCATTGTATGCCTAGAGCCTAGCTCAGTACTGGGCACAC AGTAGGGGCTCAACAAATATTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02257.hp1 others(4): Show HG01891.hp2 HG02145.hp1 HG02257.hp1 HG02615.hp1 HG03209.hp1 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0013 a0001c0001t0001g0041 a0001c0001t0001g0104 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0041 a0001c0001t0001g0104 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0004t0001g0108 a0001c0004t0002g0106	7	204	0.0343	-71	c.181 others(90): Show c.1819+2777_1819+2847delCAATATTTGTTGAGCCCCTACTGTGT GCCCAGTACTGAGCTAGGCTCTAGGCATACAATGGTAAGTGAAAG	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	14/14			chr10	TogoVar
CSMD1_chr8_2930361_4999914	3323862	ACCCAGAG others(64): Show ACCCAGAGACCCAGGAGGGGGAGTTTCCTTCACCCCACCTTTCATCATTG TTAAAATAGACACACATCTAAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp1 HG01884.hp2 others(12): Show HG01074.hp1 HG01255.hp1 HG01884.hp2 HG02258.hp1 HG02559.hp1 HG02615.hp2 HG02723.hp2 HG02922.hp2 HG03130.hp1 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA18984.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0017 a0031 a0032	a0001c0004 a0001c0017 a0001c0026 others(11): Show a0001c0004 a0001c0017 a0001c0026 a0001c0059 a0001c0068 a0001c0111 a0001c0114 a0002c0022 a0002c0031 a0003c0014 a0005c0065 a0017c0106 a0031c0069 a0032c0011	a0001c0004t0020 a0001c0004t0063 a0001c0017t0005 others(12): Show a0001c0004t0020 a0001c0004t0063 a0001c0017t0005 a0001c0026t0006 a0001c0059t0001 a0001c0068t0015 a0001c0111t0045 a0001c0114t0003 a0002c0022t0036 a0002c0031t0015 a0003c0014t0055 a0005c0065t0023 a0017c0106t0012 a0031c0069t0043 a0032c0011t0065	a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0017t0005g0003 others(12): Show a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0017t0005g0003 a0001c0026t0006g0093 a0001c0059t0001g0036 a0001c0068t0015g0049 a0001c0111t0045g0063 a0001c0114t0003g0119 a0002c0022t0036g0048 a0002c0031t0015g0001 a0003c0014t0055g0056 a0005c0065t0023g0050 a0017c0106t0012g0042 a0031c0069t0043g0100 a0032c0011t0065g0101	15	126	0.1191	-71	c.363 others(92): Show c.3632-15430_3632-15360delGTTAGATGTGTGTCTATTTTAACA ATGATGAAAGGTGGGGTGAAGGAAACTCCCCCTCCTGGGTCTCTGGG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3324158	TCGGGAGG others(64): Show TCGGGAGGGGGAGTTTCCTTCACCCCACCTTTCATTGTTGTTAAAATAGA CACACACCCAACCCCAGAGACC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01123.hp1 HG01243.hp1 others(20): Show HG01071.hp2 HG01123.hp1 HG01243.hp1 HG01261.hp2 HG01884.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18982.hp2 NA19043.hp1 NA19043.hp2 NA19090.hp1 NA19240.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0011 a0016 a0020 a0029 a0030	a0001c0002 a0001c0005 a0001c0045 others(20): Show a0001c0002 a0001c0005 a0001c0045 a0001c0046 a0001c0047 a0001c0050 a0001c0093 a0001c0102 a0002c0015 a0002c0053 a0002c0054 a0002c0060 a0002c0074 a0003c0034 a0005c0064 a0007c0029 a0008c0008 a0009c0113 a0011c0110 a0016c0063 a0020c0024 a0029c0028 a0030c0052	a0001c0002t0028 a0001c0005t0002 a0001c0045t0012 others(20): Show a0001c0002t0028 a0001c0005t0002 a0001c0045t0012 a0001c0046t0073 a0001c0047t0014 a0001c0050t0053 a0001c0093t0009 a0001c0102t0005 a0002c0015t0021 a0002c0053t0022 a0002c0054t0079 a0002c0060t0006 a0002c0074t0041 a0003c0034t0030 a0005c0064t0051 a0007c0029t0011 a0008c0008t0082 a0009c0113t0011 a0011c0110t0074 a0016c0063t0010 a0020c0024t0077 a0029c0028t0024 a0030c0052t0049	a0001c0002t0028g0005 a0001c0005t0002g0111 a0001c0045t0012g0010 others(20): Show a0001c0002t0028g0005 a0001c0005t0002g0111 a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0050t0053g0120 a0001c0093t0009g0007 a0001c0102t0005g0034 a0002c0015t0021g0008 a0002c0053t0022g0041 a0002c0054t0079g0096 a0002c0060t0006g0094 a0002c0074t0041g0031 a0003c0034t0030g0038 a0005c0064t0051g0078 a0007c0029t0011g0054 a0008c0008t0082g0126 a0009c0113t0011g0043 a0011c0110t0074g0082 a0016c0063t0010g0045 a0020c0024t0077g0104 a0029c0028t0024g0040 a0030c0052t0049g0098	23	126	0.1825	-71	c.363 others(92): Show c.3632-15726_3632-15656delGGTCTCTGGGGTTGGGTGTGTGTC TATTTTAACAACAATGAAAGGTGGGGTGAAGGAAACTCCCCCTCCCG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69			chr8	TogoVar
CSNK1G1_chr15_64160525_64361173	64322022	CTAAGTAG others(64): Show CTAAGTAGTAAATATCTTTTGCCTTCTGAAATCAATATTCTGTAATATGT AATATCTTCCTCTCATGGAGCA	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	176	0.0057	-71	c.-22 others(92): Show c.-224-21370_-224-21300delTGCTCCATGAGAGGAAGATATTAC ATATTACAGAATATTGATTTCAGAAGGCAAAAGATATTTACTACTTA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CST9L_chr20_23559732_23573484	23561005	TTCCTTCC others(64): Show TTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT CTTTCCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	392	0.0026	-71	c.38 others(82): Show c.3872_*3942delGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3726		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561023	CTTTCCTT others(64): Show CTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	392	0.0026	-71	c.38 others(82): Show c.3854_*3924delAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAA GGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3708		chr20	TogoVar
CTR9_chr11_10746246_10784746	10778399	ATGAAAAG others(64): Show ATGAAAAGTGTCCAGTGAGTCACCATCCCTGTTTATATTTTGACTTATAG CTAAAGTGCCTTATCTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	406	0.0025	-71	c.309 others(88): Show c.3096-279_3096-209delTGAAAAGTGTCCAGTGAGTCACCATCCC TGTTTATATTTTGACTTATAGCTAAAGTGCCTTATCTTTTTTT	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding	24/24			chr11	TogoVar
CYFIP1_chr15_22862052_22985368	22964282	ACACACAC others(64): Show ACACACACACACACACACACACACACACACACAACTGGCGGCCCCACCAG CAGACTCCGCAACCTCATCACT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG03098.hp1 others(2): Show HG01891.hp1 HG02630.hp1 HG03098.hp1 HG04228.hp1 NA18522.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0007 a0002c0003 a0002c0004 others(2): Show a0001c0007 a0002c0003 a0002c0004 a0002c0014 a0011c0026	a0001c0007t0010 a0002c0003t0005 a0002c0004t0006 others(2): Show a0001c0007t0010 a0002c0003t0005 a0002c0004t0006 a0002c0014t0009 a0011c0026t0005	a0001c0007t0010g0101 a0002c0003t0005g0077 a0002c0004t0006g0081 others(2): Show a0001c0007t0010g0101 a0002c0003t0005g0077 a0002c0004t0006g0081 a0002c0014t0009g0104 a0011c0026t0005g0085	5	342	0.0146	-71	c.-7+ others(88): Show c.-7+15934_-7+16004delAGTGATGAGGTTGCGGAGTCTGCTGGTG GGGCCGCCAGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYTH1_chr17_78669048_78787273	78679356	GATCACTG others(64): Show GATCACTGAGAGAAGGCAAAGTCAGAATGCTCACTGCTGACCCTCGCACA GGGACTGGAGGGAGGAGAAAGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp1 HG02165.hp2 others(4): Show HG00733.hp2 HG01099.hp1 HG02165.hp2 HG02615.hp2 HG03041.hp1 HG03098.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0113 a0001c0001t0001g0155 a0001c0001t0001g0156 others(4): Show a0001c0001t0001g0113 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0003g0081 a0001c0001t0003g0351	7	378	0.0185	-71	c.111 others(88): Show c.1118+763_1118+833delGCTTTCTCCTCCCTCCAGTCCCTGTGCG AGGGTCAGCAGTGAGCATTCTGACTTTGCCTTCTCTCAGTGAT	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	13/13			chr17	TogoVar
DCC_chr18_52335197_53540899	53029023	GAACTAAA others(64): Show GAACTAAAAATTACCAAAATGTGGATTCATATGAGCCATATTTTGTCTTT ATAATTAATTCACAAAGAAGTA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03225.hp1 HG02895.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0008 a0001c0002t0001 a0001c0003t0008	a0001c0002t0001g0029 a0001c0003t0008g0013 a0001c0002t0001g0029 a0001c0003t0008g0013	2	114	0.0175	-71	c.986 others(90): Show c.986-34267_986-34197delAAAATGTGGATTCATATGAGCCATAT TTTGTCTTTATAATTAATTCACAAAGAAGTAAACTAAAAATTACC	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCUN1D3_chr16_20849925_20905358	20861278	TATATTGG others(64): Show TATATTGGTACTCACAGTGCAAGTGGCTTCATGGAGGGAGAGAGGCGTAT CCCCTCCCCAGAGGCACTTACC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19062.hp2 HG01934.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0191 a0001c0002t0001g0124 a0001c0001t0002g0191 a0001c0002t0001g0124	2	378	0.0053	-71	c.431 others(86): Show c.431+759_431+829delGGTAAGTGCCTCTGGGGAGGGGATACGCCT CTCTCCCTCCATGAAGCCACTTGCACTGTGAGTACCAATAT	DCUN1D3	ENSG00000188215.10	transcript	ENST00000324344.9	protein_coding	2/2			chr16	TogoVar
DDX51_chr12_132131594_132149319	132136081	TCCTCCCA others(64): Show TCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCC CGAGTGTGCCCACGGTGCCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0017 a0012c0015t0017	a0012c0015t0017g0031 a0012c0015t0017g0031	1	334	0.0030	-71	c.31 others(82): Show c.3120_*3190delGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAG GAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		512		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136234	CCCGAGTG others(64): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCGCTACCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01891.hp2 HG02258.hp1 others(8): Show HG01167.hp1 HG01891.hp2 HG02258.hp1 HG02630.hp2 HG02965.hp2 HG02976.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0006 a0004c0004 others(1): Show a0003c0003 a0003c0006 a0004c0004 a0004c0012	a0003c0003t0008 a0003c0006t0006 a0004c0004t0006 others(2): Show a0003c0003t0008 a0003c0006t0006 a0004c0004t0006 a0004c0004t0008 a0004c0012t0013	a0003c0003t0008g0045 a0003c0006t0006g0020 a0004c0004t0006g0081 others(2): Show a0003c0003t0008g0045 a0003c0006t0006g0020 a0004c0004t0006g0081 a0004c0004t0008g0009 a0004c0012t0013g0018	11	334	0.0329	-71	c.29 others(82): Show c.2967_*3037delAGGTGGGAGGTAGCGGGCACCGTGGGCACACTCG GGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		359		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136269	CCCCGAGT others(64): Show CCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-71	c.29 others(82): Show c.2932_*3002delAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGG GAGGTGGGAGGTAGCGGGCACCGTGGGCACACTCGGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		324		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136305	TCCCGAGT others(64): Show TCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG01167.hp2 others(8): Show HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01433.hp1 HG01978.hp1 HG02602.hp2 HG02896.hp1 HG03130.hp2 NA18940.hp1 NA18959.hp2 NA19002.hp2	a0002 a0009 a0002 a0009	a0002c0005 a0002c0032 a0009c0013 a0002c0005 a0002c0032 a0009c0013	a0002c0005t0005 a0002c0032t0005 a0009c0013t0005 a0002c0005t0005 a0002c0032t0005 a0009c0013t0005	a0002c0005t0005g0008 a0002c0005t0005g0090 a0002c0032t0005g0092 others(2): Show a0002c0005t0005g0008 a0002c0005t0005g0090 a0002c0032t0005g0092 a0009c0013t0005g0033 a0009c0013t0005g0087	11	334	0.0329	-71	c.28 others(82): Show c.2896_*2966delGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCG GGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		288		chr12	TogoVar
DERL1_chr8_123008170_123047302	123045000	CCTGTTTT others(64): Show CCTGTTTTTAAATACTATATATAGTTCTATAATGAATACCTTTATGCATA TACATTTTATACTAATAGCTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	414	0.0024	-71	c.-29 others(82): Show c.-2949_-2879delTTAGCTATTAGTATAAAATGTATATGCATAAAGG TATTCATTATAGAACTATATATAGTATTTAAAAACAG	DERL1	ENSG00000136986.10	transcript	ENST00000259512.9	protein_coding		2699		chr8	TogoVar
DGKD_chr2_233349494_233477098	233357470	ATTATGGT others(64): Show ATTATGGTTGAGTAGGTCTAGGGTGGGTGGGGCCTTAGAATGTGCATTTC TTTTTCTTTCTTTCTTTCTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0174 a0001c0002t0025g0174	1	336	0.0030	-71	c.156 others(88): Show c.156+2799_156+2869delATGGTTGAGTAGGTCTAGGGTGGGTGGG GCCTTAGAATGTGCATTTCTTTTTCTTTCTTTCTTTCTTTTTT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2228028	GGGAGGAA others(64): Show GGGAGGAAGGGGGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGAGGGG AAGGGAGGGAGGGAAGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	50	0.0200	-71	c.805 others(88): Show c.805-6870_805-6800delTCCCTCCTTCCCTCCCTCCCTTCCCCTC TCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCCCCCTTCCTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DNAH9_chr17_11593470_11974748	11954073	AAAAAAGT others(64): Show AAAAAAGTAAACAAATTACTAGGTCCTGTAGGATAATATCAAGTGGTCTA ACATACATGTAATTGGTGTCCC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00621.hp1 others(5): Show HG00438.hp2 HG00558.hp2 HG00621.hp1 HG04115.hp2 NA18964.hp1 NA18969.hp2 NA19012.hp2 NA19085.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0013	a0001c0001 a0002c0005 a0002c0008 others(4): Show a0001c0001 a0002c0005 a0002c0008 a0002c0015 a0003c0006 a0006c0133 a0013c0112	a0001c0001t0001 a0002c0005t0001 a0002c0008t0001 others(4): Show a0001c0001t0001 a0002c0005t0001 a0002c0008t0001 a0002c0015t0001 a0003c0006t0001 a0006c0133t0001 a0013c0112t0001	a0001c0001t0001g0082 a0001c0001t0001g0139 a0002c0005t0001g0077 others(5): Show a0001c0001t0001g0082 a0001c0001t0001g0139 a0002c0005t0001g0077 a0002c0008t0001g0090 a0002c0015t0001g0055 a0003c0006t0001g0122 a0006c0133t0001g0076 a0013c0112t0001g0015	8	178	0.0449	-71	c.128 others(92): Show c.12844-7718_12844-7648delAGTAAACAAATTACTAGGTCCTGT AGGATAATATCAAGTGGTCTAACATACATGTAATTGGTGTCCCAAAA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	67/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DOCK11_chrX_118490815_118691147	118494896	TTCCTAAT others(64): Show TTCCTAATGCCCACCCCCACCCCACTCCTGGTGCAGTCAGTGCTGACCTA GGGATCACCTGCCACAGGCTCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00558.hp1 others(130): Show HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01943.hp1 HG02027.hp1 HG02055.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18953.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19083.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0013 a0002c0010 a0002c0011 a0002c0020 a0003c0005 a0004c0018 a0005c0015 a0006c0014 a0007c0016 a0008c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001 a0001c0007t0001 a0001c0013t0001 a0002c0010t0001 a0002c0011t0001 a0002c0020t0001 a0003c0005t0001 a0004c0018t0001 a0005c0015t0001 a0006c0014t0001 a0007c0016t0001 a0008c0017t0001	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 others(130): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0002g0097 a0001c0001t0002g0108 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0004g0182 a0001c0001t0004g0193 a0001c0001t0005g0011 a0001c0001t0006g0190 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0095 a0001c0002t0001g0107 a0001c0002t0001g0112 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0192 a0001c0002t0001g0211 a0001c0002t0002g0006 a0001c0002t0002g0117 a0001c0002t0002g0137 a0001c0003t0002g0109 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0122 a0001c0004t0001g0119 a0001c0004t0001g0120 a0001c0004t0001g0124 a0001c0007t0001g0098 a0001c0013t0001g0009 a0002c0010t0001g0204 a0002c0011t0001g0100 a0002c0020t0001g0121 a0003c0005t0001g0105 a0003c0005t0001g0157 a0004c0018t0001g0151 a0005c0015t0001g0015 a0006c0014t0001g0210 a0007c0016t0001g0140 a0008c0017t0001g0135	133	211	0.6303	-71	c.-10 others(82): Show c.-1075_-1005delTCCTAATGCCCACCCCCACCCCACTCCTGGTGCA GTCAGTGCTGACCTAGGGATCACCTGCCACAGGCTCA	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding		918		chrX	TogoVar
DOT1L_chr19_2158933_2237578	2225474	GCGTGGCC others(64): Show GCGTGGCCAGGCCTGTCCGTGTGGCCGTGGTGCCCAGTCAGTGCTGCTGA CCCACCTGCTGGCCCGCTGCAT	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0060 a0003c0002t0001g0060	1	378	0.0027	-71	c.366 others(86): Show c.3661+27_3661+97delGCCAGGCCTGTCCGTGTGGCCGTGGTGCCC AGTCAGTGCTGCTGACCCACCTGCTGGCCCGCTGCATCGTG	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPH1_chr17_2025153_2048898	2035431	GAGGGCCC others(64): Show GAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCC CTGCCTGTGGTGGGGAGGGGGT	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	392	0.0026	-71	c.279 others(86): Show c.279-538_279-468delAGGGCCCTGCCTGTGGTGGGGAGGTAGTGG GGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGT	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12			chr17	TogoVar
DYSF_chr2_71448561_71691763	71610453	GGTGGTTA others(64): Show GGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTT CCTCATGTAGTTCTTTGTGATC	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	192	0.0052	-71	c.390 others(88): Show c.3904-791_3904-721delGTGGTTAACTATCTAAGGCAGTACCTGC CTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	36/54			chr2	TogoVar
DYSF_chr2_71461699_71691763	71610453	GGTGGTTA others(64): Show GGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTT CCTCATGTAGTTCTTTGTGATC	G G	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	208	0.0048	-71	c.395 others(88): Show c.3958-791_3958-721delGTGGTTAACTATCTAAGGCAGTACCTGC CTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	36/55			chr2	TogoVar
EFCAB8_chr20_32853923_32966845	32901488	TCCTGATG others(64): Show TCCTGATGGCAGGAGGATATCAGGGGGTCACCTCACCAGGGCCAGGAGGG CCTCTGTGGGCCGGGCCTGCTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG03453.hp1 HG01891.hp1 HG02145.hp1 HG03453.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0007 a0017c0017t0007	a0017c0017t0007g0217 a0017c0017t0007g0227 a0017c0017t0007g0228 a0017c0017t0007g0217 a0017c0017t0007g0227 a0017c0017t0007g0228	3	284	0.0106	-71	c.108 others(90): Show c.1088+2869_1088+2939delGATGGCAGGAGGATATCAGGGGGTCA CCTCACCAGGGCCAGGAGGGCCTCTGTGGGCCGGGCCTGCTGCCT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EHD2_chr19_47708422_47748134	47718791	GGGCCCAG others(64): Show GGGCCCAGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCC TGGGTCTGAGGGAGGAGGGACT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0025 a0001c0002t0003g0025	1	398	0.0025	-71	c.502 others(86): Show c.502+188_502+258delCCCAGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGACTGG	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47718854	GGAGGGAC others(64): Show GGAGGGACTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGGC CTGGACTCCTGGGTCTGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02523.hp2 HG02040.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0323 a0001c0004t0002g0041 a0001c0002t0002g0323 a0001c0004t0002g0041	2	398	0.0050	-71	c.502 others(86): Show c.502+254_502+324delACTGGGGTCTGGACTCCTGGGTCTGAGGGA GGAGGAGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGAGGG	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EIPR1_chr2_3183970_3382818	3240271	GAACAGCC others(64): Show GAACAGCCAGCAGATCCTTCCTCAAGAACAGCGAGCAGGTCCCTCCTAAA GCAAAGCCAGCAGATCCTTCCT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	250	0.0040	-71	c.416 others(90): Show c.416+16957_416+17027delAGGAAGGATCTGCTGGCTTTGCTTTA GGAGGGACCTGCTCGCTGTTCTTGAGGAAGGATCTGCTGGCTGTT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3247005	GAGAGAGC others(64): Show GAGAGAGCGAGGGAGGGAGAGAGCGAGGGAGGGAGAGAGGGAGGGAGAGA GGGAGGGAGAGAGGGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	250	0.0040	-71	c.416 others(90): Show c.416+10223_416+10293delTCTCCCTCCCTCTCTCCCTCCCTCTC TCCCTCCCTCTCTCCCTCCCTCGCTCTCTCCCTCCCTCGCTCTCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELOF1_chr19_11548046_11564230	11557348	CACTTTGG others(64): Show CACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTTAGGAGTTGGAGA CCAGCCTGGCCAACATGGTGAA	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18951.hp1 NA19065.hp1 NA18946.hp1 NA18951.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	3	412	0.0073	-71	c.-19 others(88): Show c.-19+1772_-19+1842delTTCACCATGTTGGCCAGGCTGGTCTCCA ACTCCTAACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGT	ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding	1/3			chr19	TogoVar

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