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
ABLIM3_chr5_149136493_149265542	149169064	C C	CACCACTG others(357): Show CACCACTGACTTTGCTGTAGGACCCCTCAACCACTGACTTTGCTGTAGGA CCCCTCAACCACTGACTTTGCTGTAGGACCCCTCAACCACTGACTTTGCT GTAGGACCCCTCAACCACTGACTTTGCTGTAGGACCCCTCAACCACTGAC TTTGCTGTAGGACCCCTCAACCACTGACTTTGCTGTAGGACCCCTCAACC ACTGACTTTGCTGTAGGACCCCTCAACCACTGACTTTGCTGTAGGACCCC TCAACCACTGACTTTGCTGTAGGACCCCTCAACCACTGACTTTGCTGTAG GACCCCTCAACCACTGACTTTGCTGTAGGACCCCTCAACCACTGACTTTG CTGTAGGACCCCTCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	258	0.0039	364	c.14- others(381): Show c.14-14363_14-14362insTCAACCACTGACTTTGCTGTAGGACCCC TCAACCACTGACTTTGCTGTAGGACCCCTCAACCACTGACTTTGCTGTAG GACCCCTCAACCACTGACTTTGCTGTAGGACCCCTCAACCACTGACTTTG CTGTAGGACCCCTCAACCACTGACTTTGCTGTAGGACCCCTCAACCACTG ACTTTGCTGTAGGACCCCTCAACCACTGACTTTGCTGTAGGACCCCTCAA CCACTGACTTTGCTGTAGGACCCCTCAACCACTGACTTTGCTGTAGGACC CCTCAACCACTGACTTTGCTGTAGGACCCCTCAACCACTGACTTTGCTGT AGGACCCCTCAACCACTGACTTTGCTGTAGGACCCC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(357): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTC AACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCC ATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACC TCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0183 a0001c0001t0012g0183	1	337	0.0030	364	c.61+ others(379): Show c.61+6441_61+6442insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGGTGGGCT GAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGT GGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTG GGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGG GGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGG GCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(357): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAG CCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACT CAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCC ATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACC TCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG01175.hp2 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0071 a0001c0001t0007 a0001c0001t0071	a0001c0001t0007g0249 a0001c0001t0071g0185 a0001c0001t0007g0249 a0001c0001t0071g0185	2	337	0.0059	364	c.61+ others(379): Show c.61+6441_61+6442insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTG AGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTG GGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTG GGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGG GGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGG GCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34239986	T T	TAATAGTC others(357): Show TAATAGTCAGGTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0021 a0001c0001t0019g0021	1	246	0.0041	364	c.884 others(383): Show c.884-35297_884-35296insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCCACCTGACTATT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ADGRB3_chr6_68630282_69394506	69100947	A A	AAGGAAGG others(357): Show AAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAGGAA GAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAGGGAAGG AAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAGGCAGGGAGTGA GGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAAGAAGAGAGGGAGG GAAGGAAGGAGGAAGGGAAGGAAGAAAGGAAGGAGGAAGGGAAGGAAGGA GGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAAG GGAGGAAGGAAGGAAGAAGGGAGCGAGGGAGGGAAGGAAGGAGCAAGGGA GGGAAGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp2 HG01981.hp1 others(11): Show HG00639.hp1 HG01496.hp2 HG01981.hp1 HG02040.hp2 HG02074.hp2 HG02602.hp2 HG02735.hp2 HG03239.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18957.hp1 NA18966.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0009 a0001c0001 a0001c0003 a0003c0009	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0003c0009t0001	a0001c0001t0001g0087 a0001c0003t0001g0014 a0001c0003t0001g0015 others(11): Show a0001c0001t0001g0087 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0033 a0001c0003t0001g0079 a0001c0003t0001g0082 a0001c0003t0001g0089 a0001c0003t0002g0053 a0001c0003t0002g0120 a0003c0009t0001g0111	14	120	0.1167	364	c.248 others(385): Show c.2480+24910_2480+24911insGGAAGGAGAGAGGGAAGAAGGCAG GGAGGGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGG AAGGAGGGAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAG TGAAGGAAGGAAGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAG GAAGGAAGGAAGAAGAGAGGGAGGGAAGGAAGGAGGAAGGGAAGGAAGAA AGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAG GAAGGAGGAAGGGAAGGAAGGAAGGGAGGAAGGAAGGAAGAAGGGAGCGA GGGAGGGAAGGAAGGAGCAAGGGAGGGAAGGAAGGAGGGA	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(357): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT ACACCTCCCCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACC CTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCT CCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTC CCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCAC CTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02109.hp2 HG02145.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0021 a0006c0006t0021	a0006c0006t0021g0231 a0006c0006t0021g0234 a0006c0006t0021g0231 a0006c0006t0021g0234	2	268	0.0075	364	c.-37 others(375): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCCCCGCAC CCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCC CCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCC CTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCC ACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(357): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT ACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCC CGCACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCT CCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTC CCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCAC CTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0257 a0002c0002t0001g0257	1	268	0.0037	364	c.-37 others(375): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCA CCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCATCTTTTACCTCCCC CCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCC CTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCC ACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(357): Show TATATATTTATATATATAGAATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATATAG AATATATATTTATATATATAGAATATATATATAGAATATATATTTATATA TATAGAATATATATATAGAATATATATTTATATATATAGAATATATATAT AGAATATATATTTATATATATAGAATATATATATAGAATATATATTTATA TATATAGAATATATATATAGAATATATATTTATATATATAGAATATATAT ATAGAATATATATTTATATATATAGAATATATATATAGAATATATATATA GAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	288	0.0035	364	c.70- others(381): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATATATATATTCTATATATATAAATATATAT TCTATATATATATTCTATATATATAAATATATATTCTATATATATATTCT ATATATATAAATATATATTCTATATATATATTCTATATATATAAATATAT ATTCTATATATATATTCTATATATATAAATATATATTCTATATATATATT CTATATATATAAATATATATTCTATATATATATTCTATATATATAAATAT ATATTCTATATATATATTCTATATATATAAATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANGPT4_chr20_864900_921334	918704	T T	TAGAAGGT others(357): Show TAGAAGGTGGGGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAATAAAAAAATAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	432	0.0023	364	c.-24 others(375): Show c.-2491_-2490insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTATTTTTTTATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTTTTTTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCGGCCCCACCTTCT	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding		2371		chr20	TogoVar
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(357): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTATAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGC TCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAAC CTCTACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGT AGAGACGGGGTTTCT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	392	0.0026	364	c.703 others(379): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTATAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCT TGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTC TACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGA GACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(357): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGC TCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAAC CTCTACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGT AGAGACGGGGTTTCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01261.hp2 HG02055.hp1 others(21): Show HG00609.hp2 HG01261.hp2 HG02055.hp1 HG02074.hp2 HG02622.hp1 HG02738.hp1 HG03486.hp2 HG03688.hp2 HG06807.hp2 NA18947.hp1 NA18949.hp1 NA18961.hp1 NA18967.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18999.hp1 NA19006.hp2 NA19012.hp1 NA19054.hp1 NA19056.hp2 NA19060.hp2 NA19066.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0003 a0009c0012 a0001c0001 a0002c0003 a0009c0012	a0001c0001t0001 a0001c0001t0019 a0002c0003t0003 others(2): Show a0001c0001t0001 a0001c0001t0019 a0002c0003t0003 a0002c0003t0006 a0009c0012t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 others(21): Show a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0276 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0324 a0001c0001t0019g0230 a0002c0003t0003g0031 a0002c0003t0006g0191 a0009c0012t0001g0289	24	392	0.0612	364	c.703 others(379): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCT TGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTC TACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGA GACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(357): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGC TCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAAC CTCTACCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGT AGAGACGGGGTTTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0186 a0002c0003t0006g0186	1	392	0.0026	364	c.703 others(379): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCT TGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTC TACCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGA GACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB2_chr4_40805027_41219542	40879176	G G	GAGAGAGC others(357): Show GAGAGAGCGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0132 a0002c0001t0004g0132	1	192	0.0052	364	c.152 others(385): Show c.1529+11187_1529+11188insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCACCGCTCTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41009229	G G	GAAAAAAA others(357): Show GAAAAAAACCCTAACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTGAAAATACAAAAAAA AAATTAGCCAGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0016 a0002c0001t0016	a0002c0001t0016g0150 a0002c0001t0016g0150	1	192	0.0052	364	c.835 others(381): Show c.835+4353_835+4354insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG CCCAGGCCGGACTGCGGACTGCAATGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCTGGCTAATTTTTTTTTTGTATTT TCAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTAGTTAGGGTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(357): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATGTATAAATACATATACATATTTATACATATATGT ATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0023 a0001c0001t0103g0023	1	256	0.0039	364	c.39 others(373): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATGTATAAATACATATACATATTTATACATATATGTATAAATACATAT ACATATTTATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1825174	C C	CCACCTGT others(357): Show CCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCC ACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACC CGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCTGCACCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0034 a0001c0023t0001g0034	1	363	0.0028	364	c.-48 others(381): Show c.-48+1068_-48+1069insTCACCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTC ACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGT CCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACAC CCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955149	A A	ATGGGTAG others(357): Show ATGGGTAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCT GGAGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCTCACAGTTTCTC TGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCACTGTTTG TCTGGATGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTT TCTCTGGATGGGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTG TTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCAC TGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCAC TGTGTTTCTCTGGAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0114 a0001c0114	a0001c0114t0017 a0001c0114t0017	a0001c0114t0017g0122 a0001c0114t0017g0122	1	363	0.0028	364	c.352 others(383): Show c.3521-1600_3521-1599insTGGGTAGCCAGGTGCTCCCTGAAAGG AGGTGCACTCTCACTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAG GAGGCACACTCTCACAGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAA AGGAGGCGCACTCTCACTGTTTGTCTGGATGGGTAGCTAGGTGCATCCTG AAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCGAGGTGCTCCC TGAAAGGAGGTGCACTCACTGTGTTTCTCTGGATGGGTAGCTAGGTGCTC CCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCTAGGTGC TCCCTGAAAGGAGGTGCACTCACTGTGTTTCTCTGGAT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955149	A A	ATGGGTAG others(357): Show ATGGGTAGCCAGGTGCTTCCTGAAAGGAGGCGCACTCTCACTGTTCCTCT GGAGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCTCACAGTTTCTC TGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCACTGTTTG TCTGGATGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTT TCTCTGGATGGGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTG TTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCAC TGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCAC TGTGTTTCTCTGGAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0112 a0001c0112	a0001c0112t0017 a0001c0112t0017	a0001c0112t0017g0124 a0001c0112t0017g0124	1	363	0.0028	364	c.352 others(383): Show c.3521-1600_3521-1599insTGGGTAGCCAGGTGCTTCCTGAAAGG AGGCGCACTCTCACTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAG GAGGCACACTCTCACAGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAA AGGAGGCGCACTCTCACTGTTTGTCTGGATGGGTAGCTAGGTGCATCCTG AAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCGAGGTGCTCCC TGAAAGGAGGTGCACTCACTGTGTTTCTCTGGATGGGTAGCTAGGTGCTC CCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCTAGGTGC TCCCTGAAAGGAGGTGCACTCACTGTGTTTCTCTGGAT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955149	A A	ATGGGTAG others(357): Show ATGGGTAGCCAGGTGCTTCCTGAAAGGAGGTGCACTCTCACTGTTCCTCT GGAGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCTCACAGTTTCTC TGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCACTGTTTG TCTGGATGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTT TCTCTGGATGGGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTG TTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCAC TGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCAC TGTGTTTCTCTGGAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(94): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01884.hp2 HG01943.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG02976.hp1 HG03041.hp1 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp2 NA19002.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA20805.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0006 a0007 a0013 a0015 a0016 a0024	a0001c0001 a0001c0003 a0001c0004 others(45): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0014 a0001c0016 a0001c0021 a0001c0036 a0001c0037 a0001c0043 a0001c0050 a0001c0062 a0001c0063 a0001c0068 a0001c0071 a0001c0096 a0001c0104 a0001c0111 a0001c0116 a0001c0117 a0001c0140 a0001c0156 a0002c0017 a0002c0027 a0002c0030 a0002c0032 a0002c0034 a0002c0048 a0002c0054 a0002c0060 a0002c0074 a0002c0108 a0002c0121 a0002c0124 a0002c0152 a0004c0038 a0004c0051 a0006c0065 a0006c0093 a0006c0099 a0006c0113 a0006c0134 a0007c0148 a0013c0056 a0015c0146 a0016c0107 a0024c0083	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(68): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0043 a0001c0003t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0013 a0001c0004t0039 a0001c0004t0048 a0001c0008t0002 a0001c0008t0037 a0001c0009t0002 a0001c0009t0006 a0001c0009t0023 a0001c0009t0058 a0001c0014t0002 a0001c0014t0066 a0001c0016t0002 a0001c0016t0012 a0001c0021t0002 a0001c0021t0005 a0001c0021t0006 a0001c0036t0002 a0001c0036t0004 a0001c0037t0005 a0001c0043t0002 a0001c0043t0012 a0001c0050t0002 a0001c0050t0006 a0001c0062t0002 a0001c0063t0002 a0001c0068t0004 a0001c0071t0002 a0001c0096t0033 a0001c0104t0002 a0001c0111t0047 a0001c0116t0004 a0001c0117t0005 a0001c0140t0005 a0001c0156t0002 a0002c0017t0002 a0002c0027t0005 a0002c0030t0002 a0002c0030t0004 a0002c0032t0005 a0002c0034t0004 a0002c0034t0040 a0002c0048t0002 a0002c0048t0067 a0002c0054t0002 a0002c0060t0012 a0002c0074t0002 a0002c0108t0004 a0002c0121t0013 a0002c0124t0013 a0002c0152t0002 a0004c0038t0018 a0004c0051t0005 a0004c0051t0006 a0006c0065t0017 a0006c0093t0002 a0006c0099t0002 a0006c0113t0070 a0006c0134t0005 a0007c0148t0002 a0013c0056t0002 a0015c0146t0006 a0016c0107t0004 a0024c0083t0002	a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0224 others(94): Show a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0224 a0001c0001t0002g0239 a0001c0001t0004g0022 a0001c0001t0004g0138 a0001c0001t0004g0141 a0001c0001t0004g0165 a0001c0001t0004g0168 a0001c0001t0004g0354 a0001c0001t0012g0207 a0001c0001t0043g0145 a0001c0003t0001g0081 a0001c0004t0002g0072 a0001c0004t0002g0230 a0001c0004t0002g0251 a0001c0004t0002g0324 a0001c0004t0004g0140 a0001c0004t0005g0299 a0001c0004t0013g0018 a0001c0004t0039g0076 a0001c0004t0048g0104 a0001c0008t0002g0027 a0001c0008t0002g0067 a0001c0008t0002g0152 a0001c0008t0002g0156 a0001c0008t0002g0210 a0001c0008t0002g0221 a0001c0008t0002g0277 a0001c0008t0037g0154 a0001c0009t0002g0055 a0001c0009t0002g0080 a0001c0009t0006g0120 a0001c0009t0023g0046 a0001c0009t0023g0047 a0001c0009t0058g0200 a0001c0014t0002g0242 a0001c0014t0002g0250 a0001c0014t0002g0254 a0001c0014t0002g0256 a0001c0014t0066g0119 a0001c0016t0002g0184 a0001c0016t0012g0132 a0001c0021t0002g0245 a0001c0021t0002g0321 a0001c0021t0005g0312 a0001c0021t0006g0128 a0001c0036t0002g0229 a0001c0036t0004g0177 a0001c0037t0005g0308 a0001c0043t0002g0153 a0001c0043t0012g0279 a0001c0050t0002g0255 a0001c0050t0006g0127 a0001c0062t0002g0208 a0001c0063t0002g0209 a0001c0068t0004g0167 a0001c0071t0002g0131 a0001c0096t0033g0175 a0001c0104t0002g0157 a0001c0111t0047g0123 a0001c0116t0004g0171 a0001c0117t0005g0305 a0001c0140t0005g0297 a0001c0156t0002g0007 a0002c0017t0002g0041 a0002c0017t0002g0042 a0002c0017t0002g0056 a0002c0027t0005g0298 a0002c0030t0002g0077 a0002c0030t0004g0169 a0002c0032t0005g0313 a0002c0034t0004g0148 a0002c0034t0040g0074 a0002c0048t0002g0061 a0002c0048t0067g0095 a0002c0054t0002g0020 a0002c0054t0002g0023 a0002c0060t0012g0284 a0002c0074t0002g0052 a0002c0108t0004g0142 a0002c0121t0013g0110 a0002c0124t0013g0088 a0002c0152t0002g0019 a0004c0038t0018g0085 a0004c0051t0005g0289 a0004c0051t0006g0319 a0006c0065t0017g0125 a0006c0093t0002g0197 a0006c0099t0002g0087 a0006c0113t0070g0304 a0006c0134t0005g0316 a0007c0148t0002g0003 a0013c0056t0002g0246 a0015c0146t0006g0111 a0016c0107t0004g0135 a0024c0083t0002g0244	97	363	0.2672	364	c.352 others(383): Show c.3521-1600_3521-1599insTGGGTAGCCAGGTGCTTCCTGAAAGG AGGTGCACTCTCACTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAG GAGGCACACTCTCACAGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAA AGGAGGCGCACTCTCACTGTTTGTCTGGATGGGTAGCTAGGTGCATCCTG AAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCGAGGTGCTCCC TGAAAGGAGGTGCACTCACTGTGTTTCTCTGGATGGGTAGCTAGGTGCTC CCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCTAGGTGC TCCCTGAAAGGAGGTGCACTCACTGTGTTTCTCTGGAT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955149	A A	ATGGGTAG others(357): Show ATGGGTAGCCAGGTGCTTCCTGAAAGGAGGTGCACTCTCACTGTTCCTCT GGAGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCTCACAGTTTCTC TGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCACTGTTTG TCTGGATGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTT TCTCTGGATGGGTAGGGAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTG TTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCAC TGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCAC TGTGTTTCTCTGGAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0006 a0002c0027t0006	a0002c0027t0006g0100 a0002c0027t0006g0100	1	363	0.0028	364	c.352 others(383): Show c.3521-1600_3521-1599insTGGGTAGCCAGGTGCTTCCTGAAAGG AGGTGCACTCTCACTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAG GAGGCACACTCTCACAGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAA AGGAGGCGCACTCTCACTGTTTGTCTGGATGGGTAGCTAGGTGCATCCTG AAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGGGAGGTGCTCCC TGAAAGGAGGTGCACTCACTGTGTTTCTCTGGATGGGTAGCTAGGTGCTC CCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCTAGGTGC TCCCTGAAAGGAGGTGCACTCACTGTGTTTCTCTGGAT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955149	A A	ATGGGTAG others(357): Show ATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCT GGAGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCTCACAGTTTCTC TGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCACTGTTTG TCTGGATGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTT TCTCTGGATGGGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTG TTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCAC TGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCAC TGTGTTTCTCTGGAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	363	0.0028	364	c.352 others(383): Show c.3521-1600_3521-1599insTGGGTAGCTAGGTGCTCCCTGAAAGG AGGTGCACTCTCACTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAG GAGGCACACTCTCACAGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAA AGGAGGCGCACTCTCACTGTTTGTCTGGATGGGTAGCTAGGTGCATCCTG AAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCGAGGTGCTCCC TGAAAGGAGGTGCACTCACTGTGTTTCTCTGGATGGGTAGCTAGGTGCTC CCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCTAGGTGC TCCCTGAAAGGAGGTGCACTCACTGTGTTTCTCTGGAT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28			chr8	TogoVar
ARPP21_chr3_35634525_35799486	35744043	T T	TCCAAGCT others(357): Show TCCAAGCTTGGCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTGTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	266	0.0038	364	c.213 others(379): Show c.2137+94_2137+95insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTGTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAAGCTTGGCAATTT	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP10A_chr15_25673712_25868327	25758430	G G	GATCACCT others(357): Show GATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCCATCACCTGCTCCACCCTAACTCATTCCCACCACCTGC TCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGATC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	300	0.0033	364	c.655 others(383): Show c.655-22290_655-22289insAGGAATGAGTTAGGGTGGAGCAGGTG GTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAG CAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGA GTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTGG GAATGAGTTAGGGTGGAGCAGGTGATGGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGAT	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
AXDND1_chr1_179360971_179559735	179522820	A A	AATATCCT others(357): Show AATATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19079.hp1 NA18979.hp1 NA19079.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0298 a0004c0005t0001g0306 a0004c0005t0001g0298 a0004c0005t0001g0306	2	356	0.0056	364	c.249 others(383): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATATATATATATATATATATATATCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522820	A A	AATATCCT others(357): Show AATATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATA TATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0305 a0004c0005t0001g0305	1	356	0.0028	364	c.249 others(383): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATATATATATATATATCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(357): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT ATATATATATATATC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0185 a0002c0023t0001g0185	1	356	0.0028	364	c.249 others(383): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AZU1_chr19_822837_837018	835512	A A	AGGCCCCG others(357): Show AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	391	0.0026	364	c.36 others(375): Show c.3635_*3636insGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3495		chr19	TogoVar
B3GNT4_chr12_122198709_122213952	122210640	A A	AAGTGCTG others(357): Show AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGGTGATATATCAAC TTTTTAAATGATTTTGTTGTCTCTTCCTTTTGTCACCTGGTACAAAATTT ACTGTGTGTCTTAGAAGAGTATGTAAATTTAGAGGGAGGGGGCAAAGTTT TATATTTAGTATATATACATTTGTTAGGTGTTTAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCAGGTGATATATCAACTTTTTAAATGATTTTGTT GTCTCTTCCTTTTGTCACCTGGTACAAAATTTACTGTGTGTCTTAGAAGA GTATGTAAATTTAGAGGGAGGGGGCAAAGTTTTATATTTAGTATATATAC ATTTGTTAGGTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG03041.hp1 NA18522.hp2 HG01243.hp2 HG03041.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0014 a0002c0002t0014g0014	3	412	0.0073	364	c.32 others(375): Show c.3252_*3253insAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC AGGTGATATATCAACTTTTTAAATGATTTTGTTGTCTCTTCCTTTTGTCA CCTGGTACAAAATTTACTGTGTGTCTTAGAAGAGTATGTAAATTTAGAGG GAGGGGGCAAAGTTTTATATTTAGTATATATACATTTGTTAGGTGTTTAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGGTGATATATCAACTTT TTAAATGATTTTGTTGTCTCTTCCTTTTGTCACCTGGTACAAAATTTACT GTGTGTCTTAGAAGAGTATGTAAATTTAGAGGGAGGGGGCAAAGTTTTAT ATTTAGTATATATACATTTGTTAGGTGTTT	B3GNT4	ENSG00000176383.9	transcript	ENST00000324189.5	protein_coding		1689		chr12	TogoVar
B3GNTL1_chr17_82937149_83056770	82964842	C C	CGGGGACA others(357): Show CGGGGACACGGACGCCTGCAGGTGCACCCCCACGGGGGGGACGGGGACAC GGACGCCTGCAGGTGCACCCCCACGGGAGGACGGGGACACGGACGCCTGC AGGTGCACCCCCACGGGGGGGACGGGGACACGGACGCCTGCAGGTGCACC CCCACGGGGGGGACGGGGACACGGACGCCTGCAGGTGCACCCCCACGGGG GGACGGGGACACGGACGCCTGCAGGTGCACCCCCACGGGGGGACGGGGAC ACGGACGCCTGCAGGTGCACCCCCACGGGGGGGACGGGGACACGGACGCC TGCAGGTGCACCCCCACGGGGGGACGGGGACACGGACGCCTGCAGGTGCA CCCCCACGGGGGGAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0199 a0001c0003t0015g0199	1	266	0.0038	364	c.555 others(379): Show c.555+808_555+809insATCCCCCCGTGGGGGTGCACCTGCAGGCGT CCGTGTCCCCGTCCCCCCGTGGGGGTGCACCTGCAGGCGTCCGTGTCCCC GTCCCCCCCGTGGGGGTGCACCTGCAGGCGTCCGTGTCCCCGTCCCCCCG TGGGGGTGCACCTGCAGGCGTCCGTGTCCCCGTCCCCCCGTGGGGGTGCA CCTGCAGGCGTCCGTGTCCCCGTCCCCCCCGTGGGGGTGCACCTGCAGGC GTCCGTGTCCCCGTCCCCCCCGTGGGGGTGCACCTGCAGGCGTCCGTGTC CCCGTCCTCCCGTGGGGGTGCACCTGCAGGCGTCCGTGTCCCCGTCCCCC CCGTGGGGGTGCACCTGCAGGCGTCCGTGTCCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	7/12			chr17	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(357): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATTATATATATTTATATATATATATATTATATATATAT TTATATATATATATATTATATATATATTTATATATATATATATTATATAT ATATTTATATATATATATATTATATATATATTTATATATATATATATTAT ATATATATTTATATATATATATATTATATATATATTTATATATATATATT ATATATATATTTATATATATATATTATATATATATTTATATATATATATT ATATATATATTTATA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0094 a0005c0005t0001g0094	1	216	0.0046	364	c.-2- others(381): Show c.-2-22485_-2-22484insTATAAATATATATATAATATATATATAT AAATATATATATAATATATATATATAAATATATATATAATATATATATAT AAATATATATATAATATATATATATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATAAATATATATATAAT ATATATATATATAAATATATATAATATATATATATATAAATATATATATA ATATATATATATAAATATATATATAATATATATATATATAAATATATATA TTATATATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BCL2L1_chr20_31659458_31727868	31689262	A A	AAAGGGAG others(357): Show AAAGGGAGGGAAGGGGAGGGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAG AGGAGGGGAAGGGGAGGGGAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGG TAGGGGAGGGGAAGGGAAGGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGA CAGGGAGGGGCGGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGG GGAGGGAAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGG AGGGAAGAGGGAAGGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGG GGAGGAGAGGGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGA GGGGAGAGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG00099.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	186	0.0108	364	c.565 others(383): Show c.565-23177_565-23176insCCCCTCCCTCTCCCCTCCCCTCCCCT CCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCTCCCCTCTC CTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTCCCCTCCCTCT CCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCC TCTCCCCTCCCCTCCCTCTCCACTCCCCGCCCCTCCCTGTCCCCTTCCCC TTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTACCCTTCCCCTC CCCTACCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCTCTCCTCTTCCC CTCGCCTCCCCTACCCTTCCCCTCCCCTTCCCTCCCTT	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(357): Show ATATATTTATAATAAATATTATATATTATATATTTATAATAAATATTATA TATTATATATTTATTATAAATATTATATATTATATATTTATTATAAATAT TATATATTATATATTTATAATAAATATAATATATTATATATTATATTTAT AATAAATATAATATATTATATATTATATTTATAATAAATATTATATATTA TATATTATATTTATAATAAATATAATATATTATATATTATATTTATAATA AATATAATATATTATATATTATATTTATAATAAATATTATATATTATATA TTATATTTATAATAAATATAATATATTATATATTATATTTATAATAAATA TTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02630.hp2 others(3): Show HG01167.hp2 HG01169.hp2 HG02630.hp2 HG03209.hp2 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0061 a0001c0001t0006 a0001c0001t0061	a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0156 others(3): Show a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0164 a0001c0001t0061g0226	6	290	0.0207	364	c.426 others(383): Show c.426+35691_426+35692insTATAATAAATATTATATATTATATAT TTATTATAAATATTATATATTATATATTTATTATAAATATTATATATTAT ATATTTATAATAAATATAATATATTATATATTATATTTATAATAAATATA ATATATTATATATTATATTTATAATAAATATTATATATTATATATTATAT TTATAATAAATATAATATATTATATATTATATTTATAATAAATATAATAT ATTATATATTATATTTATAATAAATATTATATATTATATATTATATTTAT AATAAATATAATATATTATATATTATATTTATAATAAATATTATATATTA TATATTATATTTATAATAAATATTATATATTATATATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BLMH_chr17_30243203_30296944	30254616	T T	TAAAAAAT others(357): Show TAAAAAATGAAAATTTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	298	0.0034	364	c.121 others(383): Show c.1217-5449_1217-5448insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCAAATTTTCATTTTTT	BLMH	ENSG00000108578.15	transcript	ENST00000261714.11	protein_coding	11/11			chr17	TogoVar
C10orf90_chr10_126419997_126675693	126672434	G G	GCAGGACT others(357): Show GCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCA GCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGG TCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAG GACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGA GACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTA CCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCAT CAGCTACCCCGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA19000.hp2 NA18998.hp2 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0066 a0004c0005t0001g0057 a0001c0001t0001g0066 a0004c0005t0001g0057	2	218	0.0092	364	c.-19 others(375): Show c.-1955_-1954insGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCG GGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG GTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCA GTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGA TGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGT AGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCT CGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCC TGGTCTCGGGGTAGCTGATGACCAGTCCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		1742		chr10	TogoVar
C10orf90_chr10_126419997_126675693	126672826	C C	CCAGGACT others(357): Show CCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCA GCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGG TCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAG GACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGA GACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTA CCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCAT CAGCTACCCCGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	218	0.0046	364	c.-23 others(375): Show c.-2347_-2346insTTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCG GGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG GTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCA GTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGA TGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGT AGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCT CGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCC TGGTCTCGGGGTAGCTGATGACCAGTCCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		2134		chr10	TogoVar
C1QTNF8_chr16_1083226_1101244	1092754	A A	AGCACACA others(357): Show AGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACC AATCCCTGCACACAGTCGGCGCTCAACAAATCACTGCACACAGTCGGCGC TCAACCAATCACAGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACCAATCACAGCA CACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGCTCAACCAATC CGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAA CAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGC GCTCAACGAATCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	396	0.0025	364	c.4+ others(377): Show c.4+742_*4+743insAGGGATTCGTTGAGCGCCGACTGTGTGCAGGG ATTGATTGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGT GCAGGGATTGGTTGAGCGCCGACTGTGTGCACGGATTGGTTGAGCGCCGA CTGTGTGCAGTGATTGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAG CGCTGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG GTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAG TGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGT GTGCAGGGATTGATTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1092796	A A	ACTCAACC others(357): Show ACTCAACCAATCCCTGCACACAGTCGGCGCTCAACAAATCACTGCACACA GTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAACCAATCCCTG CACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACCAA TCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGCTC AACCAATCACAGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCG GCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACA CAGTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATCCC TGCACACAGTCGGCG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0064 a0001c0001t0028g0064	1	396	0.0025	364	c.4+ others(377): Show c.4+700_*4+701insCGCCGACTGTGTGCAGGGATTGATTGAGCGCC GACTGTGTGCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTG AGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGAT TGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGC AGTGATTGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCTGACT GTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCG CCGACTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTTGT TGAGCGCCGACTGTGTGCAGGGATTGGTTGAG	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1092796	A A	ACTCAACC others(357): Show ACTCAACCAATCCCTGCACACAGTCGGCGCTCAACAAATCACTGCACACA GTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAACCAATCCCTG CACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACCAA TCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGCTC AACCAATCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCG GCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACA CAGTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATCCC TGCACACAGTCGGCG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0151 a0001c0001t0048g0151	1	396	0.0025	364	c.4+ others(377): Show c.4+700_*4+701insCGCCGACTGTGTGCAGGGATTGATTGAGCGCC GACTGTGTGCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTG AGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGAT TGGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGC AGTGATTGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCTGACT GTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCG CCGACTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTTGT TGAGCGCCGACTGTGTGCAGGGATTGGTTGAG	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1092796	A A	ACTCAACC others(357): Show ACTCAACCAATCCCTGCACACAGTCGGTGCTCAACAAATCACTGCACACA GTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAACCAATCCCTG CACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACCAA TCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGCTC AACCAATCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCG GCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACA CAGTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATCCC TGCACACAGTCGGCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02647.hp2 others(6): Show HG01109.hp2 HG01243.hp2 HG02647.hp2 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 NA19030.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0008 a0002c0002t0009g0159 a0002c0002t0009g0008 a0002c0002t0009g0159	9	396	0.0227	364	c.4+ others(377): Show c.4+700_*4+701insCGCCGACTGTGTGCAGGGATTGATTGAGCGCC GACTGTGTGCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTG AGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGAT TGGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGC AGTGATTGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCTGACT GTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCG CCGACTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTTGT TGAGCACCGACTGTGTGCAGGGATTGGTTGAG	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(357): Show GAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGG AAGCGGGAGGAAGGGGGAGGAAGGGGGGGGAAGGGGGAGGAAGGGGGAGG AAGGGGGAGGAAAGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGG AAGGGGGAGGAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAATGGGAGG AAGGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGGAAGCGGGAGGAA GGGGGGGGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGGAAGGGGGAGGAA GGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGAGGAAGG GGGTAAGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	234	0.0043	364	c.207 others(381): Show c.207-4737_207-4736insACCCCCCCCTTACCCCCTTCCTCCCCCT TCCTCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTC CCCCCCCCTTCCTCCCGCTTCCCCCCTTCCCCCCCCCTTCCTCCCGCTTC CCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCT CCCCCTTCCTCCCACTTCCTCCCCCTTCCTCCCCCTTCCTCCCCCTTCCT CCCCCTTCCTCCCCCTTCCTCCCCTTTCCTCCCCCTTCCTCCCCCTTCCT CCCCCTTCCCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCCCTTCCTC CCATTTCCTCCCCCTTCCTCCCACTTCCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CALN1_chr7_71774491_72417338	72209301	T T	TTTCCTTC others(357): Show TTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCT TCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCC TCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTT TCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCC TCTTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0130 a0001c0001t0049g0130	1	142	0.0070	364	c.244 others(383): Show c.244+69384_244+69385insGGAGGGAAGGAAAGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAA AGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAA GGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGG AAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(357): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGG AGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGA GACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGG AGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19006.hp1 NA18951.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0240 a0001c0001t0003g0221 a0001c0001t0003g0240	2	386	0.0052	364	c.803 others(378): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGA CGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGAC GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATAAAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0286	1	288	0.0035	364	c.154 others(383): Show c.1546+1164_1546+1165insATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTATATAAAATATATATTATATTATATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATAATATATATTATATAAAATATATATTATATTAT	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTATATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	288	0.0035	364	c.154 others(383): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTTTATAAAATATATATTATATTATA TAATATATATTATATAAAATATATATTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00621.hp2 others(32): Show HG00099.hp2 HG00280.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01257.hp1 HG01515.hp2 HG02027.hp1 HG02055.hp2 HG02486.hp1 HG03239.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03942.hp2 HG04199.hp2 NA18947.hp1 NA18963.hp1 NA18983.hp2 NA18987.hp1 NA18990.hp2 NA19012.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0010	a0001c0001 a0001c0017 a0004c0006 others(2): Show a0001c0001 a0001c0017 a0004c0006 a0007c0012 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0017t0002 a0004c0006t0001 a0007c0012t0002 a0010c0009t0001	a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0048 others(32): Show a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0246 a0001c0001t0002g0257 a0001c0001t0005g0170 a0001c0017t0002g0199 a0004c0006t0001g0014 a0004c0006t0001g0124 a0007c0012t0002g0233 a0010c0009t0001g0049	35	288	0.1215	364	c.154 others(383): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTTTATAAAATATATATTATATTATA TAATATATATTTTATAAAATATATATTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATATAATATA TATTATATTATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03225.hp1 HG03486.hp2 others(1): Show HG02109.hp2 HG03225.hp1 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0185 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0185 a0001c0001t0003g0275	4	288	0.0139	364	c.154 others(383): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATATAAT ATATATTATATTATATAATATATATTTTATAAAATATATATTATATTATA TAATATATATTTTATAAAATATATATTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTACATATAATATATATTATATA AAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	288	0.0035	364	c.154 others(383): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATATAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTTTATAAAATATATATTATATTATA TAATATATATTTTATAAAATATATATTATATTACATATAATATATATTAT ATAAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG01884.hp1 others(15): Show HG00423.hp2 HG00639.hp2 HG01884.hp1 HG02132.hp1 HG02559.hp2 HG02735.hp1 HG03017.hp1 HG03139.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18952.hp2 NA18982.hp2 NA19054.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0009 a0001c0001t0001g0084 a0001c0001t0001g0094 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0176 a0001c0001t0002g0210 a0001c0001t0002g0239 a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0263 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0284 a0001c0001t0006g0171	18	288	0.0625	364	c.154 others(383): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATATAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTTTATAAAATATATATTATATTATA TAATATATATTTTATAAAATATATATTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATATAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01361.hp2 HG01069.hp2 HG01071.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0181 a0001c0001t0001g0002 a0001c0001t0001g0181	3	288	0.0104	364	c.154 others(383): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATATAATATATATTATATTATATAATATATATTATATATAATAT ATATTATATTATATATAATATATATTTTATAAAATATATATTATATTATA TAATATATATTTTATAAAATATATATTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATATAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	288	0.0035	364	c.154 others(383): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATATAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTTTATAAAATATATATTATATTATA TAATATATATTTTATAAAATATATATTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar

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