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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ELOVL6_chr4_110040846_110203615	110084414	C C	CATGATAT others(293): Show CATGATATATGACATATGACATACATGATATATCACATATATCATATATG ATATATCACATATATCATATATGATATATCACATATCATATATGATATAT CACATATATCATATATATCACATATATCATATATATCACATATATCATAT ATATCACATATATCATATATATCACATATATCATATATGATATATCACAT ATATCATATATGATATATCACATATATCATATATGATATATCACATATAT CATATATGATATATCACATATATCATATATGATATATCACATATATCATA T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	214	0.0047	300	c.221 others(319): Show c.221+21082_221+21083insATATGATATATGTGATATATCATATA TGATATATGTGATATATCATATATGATATATGTGATATATCATATATGAT ATATGTGATATATCATATATGATATATGTGATATATCATATATGATATAT GTGATATATATGATATATGTGATATATATGATATATGTGATATATATGAT ATATGTGATATATATGATATATGTGATATATCATATATGATATGTGATAT ATCATATATGATATATGTGATATATCATATATGATATATGTGATATATCA TGTATGTCATATGTCATATATCAT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
ENG_chr9_127810016_127859658	127834835	T T	TAGGTTGG others(293): Show TAGGTTGGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp1 HG02622.hp1 others(5): Show HG02280.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02738.hp2 HG03516.hp1 NA19043.hp2 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0022 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0006t0010 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0010 a0001c0022t0001 a0003c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0316 a0001c0001t0001g0318 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0002t0001g0313 a0001c0006t0010g0336 a0001c0022t0001g0049 a0003c0005t0001g0323	8	325	0.0246	300	c.220 others(317): Show c.220-5009_220-5008insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAATAACCAACCT		ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	2/14						chr9	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(293): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	376	0.0027	300	c.83+ others(313): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGCATTTAAAGTTTT		ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
EPSTI1_chr13_42881388_42997241	42885377	T T	TAAAAAAA others(293): Show TAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGCGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 NA19004.hp1 HG02040.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0025 a0001c0001t0014 a0001c0002t0025	a0001c0001t0014g0342 a0001c0002t0025g0225 a0001c0001t0014g0342 a0001c0002t0025g0225	2	253	0.0079	300	c.31 others(311): Show c.3116_*3117insTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CTTTTTTTTTTTTTTT		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding					1010		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42885377	T T	TAAAAAAA others(293): Show TAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01123.hp1 HG01346.hp2 others(11): Show HG00597.hp2 HG01123.hp1 HG01346.hp2 HG01358.hp1 HG03710.hp1 HG04228.hp2 NA18944.hp2 NA18951.hp1 NA18998.hp2 NA19064.hp2 NA19066.hp2 NA19080.hp1 NA19085.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0018 a0001c0002t0023 others(1): Show a0001c0001t0014 a0001c0001t0018 a0001c0002t0023 a0001c0002t0025	a0001c0001t0014g0257 a0001c0001t0014g0258 a0001c0001t0014g0272 others(11): Show a0001c0001t0014g0257 a0001c0001t0014g0258 a0001c0001t0014g0272 a0001c0001t0014g0273 a0001c0001t0014g0276 a0001c0001t0014g0341 a0001c0001t0018g0005 a0001c0001t0018g0021 a0001c0001t0018g0055 a0001c0001t0018g0057 a0001c0002t0023g0031 a0001c0002t0023g0089 a0001c0002t0023g0139 a0001c0002t0025g0269	14	265	0.0528	300	c.31 others(311): Show c.3116_*3117insTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CTTTTTTTTTTTTTTT		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding					1010		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42885377	T T	TAAAAAAA others(293): Show TAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCTCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0230 a0001c0002t0025g0230	1	252	0.0040	300	c.31 others(311): Show c.3116_*3117insTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CTTTTTTTTTTTTTTT		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding					1010		chr13	TogoVar
ESPNL_chr2_238095340_238138287	238110726	T T	TTGCCATA others(293): Show TTGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGTCATATGTTACCGAGTGTCCCTTTACTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00558.hp1 others(43): Show HG00140.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01346.hp1 HG01358.hp2 HG01884.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18948.hp2 NA18954.hp2 NA18974.hp1 NA18997.hp2 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19065.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0015 a0016 a0017 a0018 a0021 a0023 a0031 a0034 a0035 a0040 a0044 a0046	a0001c0005 a0001c0008 a0001c0038 others(25): Show a0001c0005 a0001c0008 a0001c0038 a0002c0001 a0002c0004 a0002c0091 a0003c0010 a0003c0013 a0003c0029 a0003c0119 a0004c0017 a0005c0007 a0005c0087 a0006c0006 a0010c0088 a0015c0120 a0015c0131 a0016c0039 a0017c0040 a0018c0077 a0021c0076 a0023c0121 a0031c0054 a0034c0052 a0035c0053 a0040c0075 a0044c0094 a0046c0056	a0001c0005t0003 a0001c0005t0023 a0001c0008t0003 others(31): Show a0001c0005t0003 a0001c0005t0023 a0001c0008t0003 a0001c0008t0004 a0001c0038t0004 a0001c0038t0025 a0002c0001t0002 a0002c0004t0002 a0002c0091t0002 a0003c0010t0001 a0003c0010t0019 a0003c0013t0015 a0003c0013t0029 a0003c0029t0001 a0003c0119t0012 a0004c0017t0005 a0005c0007t0001 a0005c0007t0008 a0005c0087t0001 a0006c0006t0003 a0010c0088t0006 a0015c0120t0003 a0015c0131t0003 a0016c0039t0003 a0017c0040t0001 a0018c0077t0005 a0021c0076t0001 a0023c0121t0011 a0031c0054t0001 a0034c0052t0006 a0035c0053t0007 a0040c0075t0011 a0044c0094t0003 a0046c0056t0001	a0001c0005t0003g0194 a0001c0005t0023g0071 a0001c0008t0003g0062 others(41): Show a0001c0005t0003g0194 a0001c0005t0023g0071 a0001c0008t0003g0062 a0001c0008t0004g0066 a0001c0008t0004g0067 a0001c0038t0004g0131 a0001c0038t0025g0145 a0002c0001t0002g0027 a0002c0001t0002g0143 a0002c0001t0002g0144 a0002c0001t0002g0146 a0002c0004t0002g0064 a0002c0091t0002g0060 a0003c0010t0001g0005 a0003c0010t0001g0061 a0003c0010t0019g0005 a0003c0013t0015g0157 a0003c0013t0029g0151 a0003c0029t0001g0189 a0003c0119t0012g0150 a0004c0017t0005g0068 a0005c0007t0001g0005 a0005c0007t0001g0063 a0005c0007t0008g0050 a0005c0087t0001g0051 a0006c0006t0003g0125 a0006c0006t0003g0126 a0006c0006t0003g0127 a0010c0088t0006g0065 a0015c0120t0003g0161 a0015c0131t0003g0162 a0016c0039t0003g0204 a0016c0039t0003g0206 a0017c0040t0001g0208 a0017c0040t0001g0209 a0018c0077t0005g0069 a0021c0076t0001g0070 a0023c0121t0011g0149 a0031c0054t0001g0203 a0034c0052t0006g0207 a0035c0053t0007g0205 a0040c0075t0011g0197 a0044c0094t0003g0163 a0046c0056t0001g0039	46	115	0.4000	300	c.855 others(317): Show c.855+2812_855+2813insTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCCTTTACTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110726	T T	TTGCCATA others(293): Show TTGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGTCATATGTTACTGAGTGTCCCTTTACTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01167.hp2 others(36): Show HG00099.hp2 HG00738.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02300.hp2 HG02698.hp1 HG02735.hp2 HG02976.hp2 HG03139.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18950.hp2 NA18973.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0011 a0013 a0025	a0001c0015 a0001c0028 a0001c0050 others(12): Show a0001c0015 a0001c0028 a0001c0050 a0002c0001 a0002c0072 a0003c0013 a0003c0029 a0003c0068 a0004c0026 a0006c0069 a0007c0022 a0010c0070 a0011c0073 a0013c0074 a0025c0128	a0001c0015t0003 a0001c0015t0004 a0001c0015t0009 others(15): Show a0001c0015t0003 a0001c0015t0004 a0001c0015t0009 a0001c0015t0013 a0001c0028t0003 a0001c0050t0003 a0002c0001t0007 a0002c0072t0002 a0003c0013t0001 a0003c0029t0001 a0003c0068t0001 a0004c0026t0005 a0006c0069t0003 a0007c0022t0003 a0010c0070t0011 a0011c0073t0004 a0013c0074t0001 a0025c0128t0007	a0001c0015t0003g0180 a0001c0015t0004g0002 a0001c0015t0004g0017 others(32): Show a0001c0015t0003g0180 a0001c0015t0004g0002 a0001c0015t0004g0017 a0001c0015t0004g0174 a0001c0015t0009g0179 a0001c0015t0013g0181 a0001c0015t0013g0190 a0001c0028t0003g0176 a0001c0028t0003g0183 a0001c0028t0003g0184 a0001c0050t0003g0229 a0002c0001t0007g0028 a0002c0001t0007g0165 a0002c0001t0007g0166 a0002c0001t0007g0167 a0002c0072t0002g0002 a0003c0013t0001g0218 a0003c0013t0001g0219 a0003c0029t0001g0002 a0003c0029t0001g0017 a0003c0068t0001g0191 a0004c0026t0005g0168 a0004c0026t0005g0170 a0004c0026t0005g0177 a0004c0026t0005g0178 a0004c0026t0005g0185 a0006c0069t0003g0172 a0007c0022t0003g0002 a0007c0022t0003g0171 a0007c0022t0003g0173 a0007c0022t0003g0175 a0010c0070t0011g0188 a0011c0073t0004g0182 a0013c0074t0001g0002 a0025c0128t0007g0164	39	108	0.3611	300	c.855 others(317): Show c.855+2812_855+2813insTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGTCATATGTTACTGAGTGTCCCTTTACTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110726	T T	TTGCCATA others(293): Show TTGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGTCATATGTTACCGAGTGTCCCTTTACTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG A	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18522.hp1 HG02486.hp1 NA18522.hp1	a0002 a0008 a0002 a0008	a0002c0085 a0008c0023 a0002c0085 a0008c0023	a0002c0085t0007 a0008c0023t0010 a0002c0085t0007 a0008c0023t0010	a0002c0085t0007g0089 a0008c0023t0010g0088 a0002c0085t0007g0089 a0008c0023t0010g0088	2	71	0.0282	300	c.855 others(317): Show c.855+2802_855+2803insGTGCCATATGATACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCCTTTA CTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110726	T T	TTGCCATA others(293): Show TTGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGTCATATGTTACCGAGTGTCCCTTTACTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00597.hp1 others(63): Show HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01884.hp2 HG02074.hp2 HG02080.hp2 HG02257.hp1 HG02280.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03704.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19084.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0019 a0036 a0037	a0001c0005 a0001c0008 a0001c0028 others(16): Show a0001c0005 a0001c0008 a0001c0028 a0001c0127 a0002c0004 a0002c0011 a0003c0010 a0003c0013 a0003c0086 a0004c0003 a0004c0017 a0005c0007 a0005c0071 a0006c0006 a0006c0046 a0008c0023 a0019c0093 a0036c0092 a0037c0065	a0001c0005t0001 a0001c0005t0003 a0001c0005t0006 others(21): Show a0001c0005t0001 a0001c0005t0003 a0001c0005t0006 a0001c0008t0004 a0001c0028t0001 a0001c0127t0004 a0002c0004t0002 a0002c0004t0007 a0002c0011t0002 a0003c0010t0001 a0003c0010t0012 a0003c0013t0001 a0003c0086t0006 a0004c0003t0005 a0004c0017t0005 a0005c0007t0008 a0005c0071t0001 a0006c0006t0002 a0006c0006t0003 a0006c0046t0008 a0008c0023t0018 a0019c0093t0004 a0036c0092t0013 a0037c0065t0003	a0001c0005t0001g0118 a0001c0005t0003g0012 a0001c0005t0003g0049 others(51): Show a0001c0005t0001g0118 a0001c0005t0003g0012 a0001c0005t0003g0049 a0001c0005t0003g0087 a0001c0005t0003g0094 a0001c0005t0003g0097 a0001c0005t0003g0108 a0001c0005t0003g0109 a0001c0005t0006g0090 a0001c0008t0004g0003 a0001c0008t0004g0014 a0001c0008t0004g0024 a0001c0008t0004g0093 a0001c0008t0004g0101 a0001c0028t0001g0187 a0001c0127t0004g0217 a0002c0004t0002g0003 a0002c0004t0002g0013 a0002c0004t0002g0014 a0002c0004t0002g0024 a0002c0004t0002g0040 a0002c0004t0002g0092 a0002c0004t0002g0098 a0002c0004t0002g0099 a0002c0004t0002g0102 a0002c0004t0002g0105 a0002c0004t0002g0107 a0002c0004t0002g0111 a0002c0004t0007g0052 a0002c0011t0002g0270 a0003c0010t0001g0029 a0003c0010t0001g0095 a0003c0010t0001g0112 a0003c0010t0012g0192 a0003c0013t0001g0225 a0003c0086t0006g0110 a0004c0003t0005g0037 a0004c0017t0005g0014 a0004c0017t0005g0015 a0004c0017t0005g0113 a0004c0017t0005g0117 a0005c0007t0008g0011 a0005c0007t0008g0048 a0005c0007t0008g0100 a0005c0071t0001g0186 a0006c0006t0002g0104 a0006c0006t0003g0003 a0006c0006t0003g0116 a0006c0046t0008g0085 a0006c0046t0008g0086 a0008c0023t0018g0096 a0019c0093t0004g0003 a0036c0092t0013g0103 a0037c0065t0003g0091	66	135	0.4889	300	c.855 others(317): Show c.855+2802_855+2803insGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCCTTTA CTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110736	A A	ATACCGAG others(293): Show ATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGGATGCCATATG TTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGGGTGCCATATG TTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGGGTGTCATATG TTACCGAGTGTCCCTTTACTGTCCCAGGATCCCATTTAGGGTGCCATATG TTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGGATGCCATATG TTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGGATGCCATATG T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02056.hp1 NA18998.hp2 others(1): Show HG02027.hp1 HG02056.hp1 NA18998.hp2 NA19063.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0008 a0005c0007 a0008c0090 a0001c0008 a0005c0007 a0008c0090	a0001c0008t0004 a0005c0007t0001 a0008c0090t0001 a0001c0008t0004 a0005c0007t0001 a0008c0090t0001	a0001c0008t0004g0059 a0005c0007t0001g0072 a0005c0007t0001g0083 others(1): Show a0001c0008t0004g0059 a0005c0007t0001g0072 a0005c0007t0001g0083 a0008c0090t0001g0073	4	406	0.0099	300	c.855 others(317): Show c.855+2812_855+2813insTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCCTTTACTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
EXOC2_chr6_480154_698139	519676	G G	GCACCGAG others(293): Show GCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0171 a0001c0007t0003g0171	1	171	0.0058	300	c.238 others(321): Show c.2380+12792_2380+12793insGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTG		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGCGGG others(293): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCG TGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGG GGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01099.hp1 HG01261.hp1 others(21): Show HG00609.hp2 HG01099.hp1 HG01261.hp1 HG01943.hp2 HG02004.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02523.hp2 HG03239.hp1 HG03927.hp1 HG04115.hp2 NA18612.hp1 NA18945.hp2 NA18954.hp2 NA18959.hp1 NA18969.hp1 NA18970.hp1 NA18981.hp2 NA18994.hp1 NA19004.hp1 NA19058.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0009t0001	a0001c0001t0001g0182 a0001c0001t0001g0204 a0001c0001t0001g0223 others(21): Show a0001c0001t0001g0182 a0001c0001t0001g0204 a0001c0001t0001g0223 a0001c0001t0001g0334 a0001c0002t0001g0057 a0001c0002t0001g0094 a0001c0002t0001g0102 a0001c0002t0001g0162 a0001c0002t0001g0194 a0001c0002t0001g0213 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0261 a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0335 a0001c0002t0001g0337 a0001c0002t0001g0368 a0001c0002t0002g0339 a0001c0009t0001g0055	24	357	0.0672	300	c.46 others(311): Show c.4679_*4680insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGT GGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGT GACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA GGCGGGGCGCGGGGGA		F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding					4668		chr13	TogoVar
FAM114A1_chr4_38862806_38950739	38883423	T T	TAAAAGAC others(293): Show TAAAAGACCCAATCTACTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGC CTGTAGTCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC CAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCC TGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0337 a0002c0006t0010g0337	1	370	0.0027	300	c.348 others(317): Show c.348+5012_348+5013insCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGC GGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACT CCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGACCCAATCTA		FAM114A1	ENSG00000197712.12	transcript	ENST00000358869.5	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr4	TogoVar
FANCD2_chr3_10021437_10106932	10070476	G G	GGCCAGCC others(293): Show GGCCAGCCACCCTGTCCGGGAGGGAGGTGGGGGGCTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCAGCCTCCCGGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCTGTCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03688.hp2 HG02683.hp2 HG03688.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0115 a0005c0013t0001g0116 a0005c0013t0001g0115 a0005c0013t0001g0116	2	87	0.0230	300	c.249 others(319): Show c.2495-2388_2495-2387insACCCTGTCCGGGAGGGAGGTGGGGGG CTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCAGCCTCCCGGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCTGTCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCAGCC		FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43					INFO_REALIGN_3_PRIME	chr3	TogoVar
FAT1_chr4_186582794_186728856	186659838	C C	CTACACAC others(293): Show CTACACACACAAGCCGGCTGTGGCACCTGTCCCCTGAACGACCCTGGGTG CTCCTGCACTCTACACACACAAGCCGGCTGTGGCACCTGTCCCCTGAACG ACGCTGGGCGCTCCTGCACTCTACACACACAAGCCGGCTGTGGCACCTGT CCCCTGAACAACCCTGGGCGCTCCTGCACTCTACACACACAAGCCGGCTG TGGCACCTGTCCCCTGAACGACGCTGGGCGCTCCTGCACTCTACACACAC AAGCCGGCTGTGGCACCTGTCCCCTGAACAACCCTGGGTGCTCCTGCACT T	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0013 a0013	a0013c0006 a0013c0006	a0013c0006t0008 a0013c0006t0008	a0013c0006t0008g0035 a0013c0006t0008g0035	1	336	0.0030	300	c.358 others(319): Show c.3580+3460_3580+3461insAAGTGCAGGAGCACCCAGGGTTGTTC AGGGGACAGGTGCCACAGCCGGCTTGTGTGTGTAGAGTGCAGGAGCGCCC AGCGTCGTTCAGGGGACAGGTGCCACAGCCGGCTTGTGTGTGTAGAGTGC AGGAGCGCCCAGGGTTGTTCAGGGGACAGGTGCCACAGCCGGCTTGTGTG TGTAGAGTGCAGGAGCGCCCAGCGTCGTTCAGGGGACAGGTGCCACAGCC GGCTTGTGTGTGTAGAGTGCAGGAGCACCCAGGGTCGTTCAGGGGACAGG TGCCACAGCCGGCTTGTGTGTGTA		FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	3/26						chr4	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(293): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCATATATCACATATATCATATATCACATATATCTCATATATCACATAT ATCACATATATCATATATATCATATATCACATATATCATATATATCATAT ATCACATATATCATATATCACATATATCATATATATCATATATATCATAT ATATCATATATATCATATATATCATATATATCATATATATCATATATATC A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0034 a0002c0007t0002g0034	1	202	0.0050	300	c.-22 others(311): Show c.-2234_-2233insTGATATATATGATATATATGATATATATGATATA TATGATATATATGATATATATGATATATATGATATATATGATATATGTGA TATATGATATATGTGATATATGATATATATGATATATGTGATATATGATA TATATGATATATGTGATATATGTGATATATGAGATATATGTGATATATGA TATATGTGATATATGATAATGATATGATATATATGATATGATATATATGA TAGATCATATATGATCTCATATATATGATATATATGATATAATATATGAT CTATCATATATATCAT		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding					1592		chr5	TogoVar
FGFR4_chr5_177081915_177103144	177096905	T T	TTCCTCCT others(293): Show TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCC TCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTC C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	220	0.0045	300	c.215 others(317): Show c.2153+175_2153+176insCTCTTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCT GCTCCTCTTCCTCCTCCTCCTC		FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177096982	T T	TCTCTTCC others(293): Show TCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTC CTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCT CCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTCTTCCTCCTT CTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCT C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0140 a0003c0007t0001g0140	1	165	0.0061	300	c.215 others(317): Show c.2153+274_2153+275insCTCCTCCTCCTCCTCCTCCTCTTCCTCC TCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCT CTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTC TCCTCCTGCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTCCTC CTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTC		FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(293): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGC T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	260	0.0038	300	c.189 others(319): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCT GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTAGATTT		FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXP1_chr3_70949708_71588728	71396953	T T	TATATATA others(293): Show TATATATATATACACACATATATATGTGTGTATATATATATATACACATA TATATGTGTGTGTATATATATATACACATATATATATGTATATATATATA CATATATATGTGTATATATATATACATATATATATGTGTATATATATATA TACACACATATATATATGTGTATATATATATACACATATATATGTGTATA TATATACATATATATGTGTATATATATACACATATATATATGTGTATATA TATACATATATATGTGTATATACATATACATATATGTGTATATACATATA C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0067 a0001c0001t0071g0067	1	88	0.0114	300	c.-16 others(321): Show c.-167-37710_-167-37709insGTATATGTATATACACATATATGT ATATGTATATACACATATATATGTATATATATACACATATATATATGTGT ATATATATACACATATATATGTATATATATACACATATATATGTGTATAT ATATATACACATATATATATGTGTGTATATATATATATACACATATATAT ATGTATATATATATACACATATATATGTATATATATATACATATATATAT GTGTATATATATATACACACACATATATATGTGTATATATATATATACAC ACATATATATGTGTGTATATATATAT		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20						chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435248	A A	AAGGAAGG others(293): Show AAGGAAGGAAGAGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGAGG G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0035 a0001c0001t0065g0035	1	78	0.0128	300	c.-16 others(321): Show c.-168+58177_-168+58178insCCCTCCCTCCCTCCCTCCCTCCGT CCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCC CTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGT CCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCC CTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGT CCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCGTCCCTCTCTTCCTTCCT		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20						chr3	TogoVar
FTCD_chr21_46131779_46160579	46134599	C C	CAGGTTTA others(293): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTGA GGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTGAGGGTGAGG GTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTGAGGGT GAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTA GGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGG GTCAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	207	0.0048	300	c.23 others(311): Show c.2387_*2388insCACCCTCACCCTAAACCTGACCCTCACCCTCACC CTCACCCTGACCCTGACCCTGACCCTCACCCTAAACCTGACCCTCACCCT GACCCTGACCCTGACCCTAAACCTGACCCTGACCCTAAACCTGACCCTCA CCCTCACCCTCACCCTCACCCTCACCCTGACCCTGACCCTAAACCTGACC CTCACCCTCACCCTCACCCTCACCCTCACCCTGACCCTGACCCTAAACCT GACCCTAAACCTGACCCTCACCCTGACCCTAAACCTGACCCTGACCCTGA CCCTGACCCTAAACCT		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					2179		chr21	TogoVar
GALNT18_chr11_11265877_11627005	11560150	A A	ATGATGGG others(293): Show ATGATGGGATAGGATGGAATAGAATGAGGTATGATGGGATGGGATGGAAC AGAATGGGATACGATGGGATGGGGTGGAATAGAATGAGATATGGTGGGAT GGGGTGGAATAGAATGGGATATGATGGGATGGCGTGGAATAGAATGAGAT ATGATGGGATGGGGTGGAATAGAAAGAGATATGGTGGGATGGGGTGGAAT AGAATGGGATATGATGGGATGGCGTGGAATAGAATGAGATATGATGGGAT GAGGTGGAATAGAAAGAGATATGATGGGATGGGGTGGAATAGAATGGGAT T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0259 a0001c0003t0001g0259	1	164	0.0061	300	c.235 others(319): Show c.235+61208_235+61209insAATCCCATTCTATTCCACCCCATCCC ATCATATCTCTTTCTATTCCACCTCATCCCATCATATCTCATTCTATTCC ACGCCATCCCATCATATCCCATTCTATTCCACCCCATCCCACCATATCTC TTTCTATTCCACCCCATCCCATCATATCTCATTCTATTCCACGCCATCCC ATCATATCCCATTCTATTCCACCCCATCCCACCATATCTCATTCTATTCC ACCCCATCCCATCGTATCCCATTCTGTTCCATCCCATCCCATCATACCTC ATTCTATTCCATCCTATCCCATCA		GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	1/10						chr11	TogoVar
GALNT18_chr11_11265877_11627005	11560150	A A	ATGATGGG others(293): Show ATGATGGGATAGGATGGAATAGAATGAGGTATGATGGGATGGGGTGGAAC AGAATGGGATACGATGGGATGGGGTGGAATAGAATGAGATATGGTGGGAT GGGGTGGAATAGAATGGGATATGATGGGATGGCGTGGAATAGAATGAGAT ATGATGGGAGGGGGTGGAATAGAAAGAGATATGGTGGGATGGGGTGGAAT AGAATGGGATATGATGGGATGGCGTGGAATAGAATGAGATATGATGGGAT GAGGTGGAATAGAAAGAGATATGATGGGATGGGGTGGAATAGAATGGGAT T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(54): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01361.hp2 HG02129.hp2 HG02257.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp2 HG02896.hp2 HG03017.hp1 HG03139.hp1 HG03225.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19003.hp1 NA19005.hp1 NA19043.hp1 NA19070.hp2 NA19074.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0016 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0006t0002 a0001c0012t0006 a0001c0016t0002 a0002c0008t0001	a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0175 others(54): Show a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0229 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0065 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0119 a0001c0002t0001g0226 a0001c0002t0002g0015 a0001c0002t0002g0018 a0001c0002t0002g0064 a0001c0002t0002g0081 a0001c0002t0003g0132 a0001c0002t0003g0151 a0001c0002t0004g0070 a0001c0002t0007g0045 a0001c0002t0016g0099 a0001c0003t0001g0120 a0001c0003t0001g0123 a0001c0003t0001g0141 a0001c0003t0001g0170 a0001c0003t0001g0174 a0001c0003t0001g0196 a0001c0003t0001g0203 a0001c0003t0001g0216 a0001c0003t0001g0222 a0001c0003t0001g0224 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0243 a0001c0003t0002g0036 a0001c0003t0002g0050 a0001c0003t0002g0074 a0001c0004t0001g0101 a0001c0004t0001g0158 a0001c0004t0001g0185 a0001c0004t0002g0033 a0001c0004t0003g0169 a0001c0004t0003g0221 a0001c0005t0001g0131 a0001c0005t0001g0211 a0001c0006t0002g0030 a0001c0012t0006g0173 a0001c0016t0002g0057 a0002c0008t0001g0171	57	220	0.2591	300	c.235 others(319): Show c.235+61208_235+61209insAATCCCATTCTATTCCACCCCATCCC ATCATATCTCTTTCTATTCCACCTCATCCCATCATATCTCATTCTATTCC ACGCCATCCCATCATATCCCATTCTATTCCACCCCATCCCACCATATCTC TTTCTATTCCACCCCCTCCCATCATATCTCATTCTATTCCACGCCATCCC ATCATATCCCATTCTATTCCACCCCATCCCACCATATCTCATTCTATTCC ACCCCATCCCATCGTATCCCATTCTGTTCCACCCCATCCCATCATACCTC ATTCTATTCCATCCTATCCCATCA		GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	1/10						chr11	TogoVar
GALNT18_chr11_11265877_11627005	11560150	A A	ATGATGGG others(293): Show ATGATGGGATAGGATGGAATAGAATGAGGTATGATGGGATGGGGTGGAAC AGAATGGGATACGATGGGATGGGGTGGAATAGAATGAGATATGGTGGGAT GGGGTGGAATAGAATGGGATATGATGGGATGGCGTGGAATAGAATGAGAT ATGATGGGATGGGGTGGAATAGAAAGAGATATGGTGGGATGGGGTGGAAT AGAATGGGATATGATGGGATGGCGTGGAATAGAATGAGATATGATGGGAT GAGGTGGAATAGAAAGAGATATGATGGGATGGGGTGGAATAGAATGGGAT T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(28): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00733.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01255.hp1 HG01358.hp2 HG01496.hp1 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG04184.hp1 NA18906.hp1 NA19068.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0013 a0001c0015 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0007 a0001c0005t0001 a0001c0006t0002 a0001c0013t0001 a0001c0015t0001 a0001c0017t0001	a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0135 others(28): Show a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0168 a0001c0001t0001g0189 a0001c0001t0002g0022 a0001c0001t0002g0052 a0001c0001t0002g0059 a0001c0002t0001g0156 a0001c0002t0001g0184 a0001c0002t0001g0217 a0001c0002t0001g0245 a0001c0002t0001g0255 a0001c0002t0002g0020 a0001c0002t0004g0078 a0001c0002t0006g0190 a0001c0003t0002g0051 a0001c0004t0001g0109 a0001c0004t0002g0023 a0001c0004t0002g0029 a0001c0004t0003g0113 a0001c0004t0004g0027 a0001c0004t0007g0079 a0001c0005t0001g0110 a0001c0005t0001g0114 a0001c0005t0001g0188 a0001c0006t0002g0021 a0001c0006t0002g0032 a0001c0013t0001g0253 a0001c0015t0001g0183 a0001c0017t0001g0198	31	194	0.1598	300	c.235 others(319): Show c.235+61208_235+61209insAATCCCATTCTATTCCACCCCATCCC ATCATATCTCTTTCTATTCCACCTCATCCCATCATATCTCATTCTATTCC ACGCCATCCCATCATATCCCATTCTATTCCACCCCATCCCACCATATCTC TTTCTATTCCACCCCATCCCATCATATCTCATTCTATTCCACGCCATCCC ATCATATCCCATTCTATTCCACCCCATCCCACCATATCTCATTCTATTCC ACCCCATCCCATCGTATCCCATTCTGTTCCACCCCATCCCATCATACCTC ATTCTATTCCATCCTATCCCATCA		GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	1/10						chr11	TogoVar
GALP_chr19_56171008_56190775	56176046	C C	CTGCCAGC others(293): Show CTGCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0001 a0001c0002t0025g0001	1	408	0.0025	300	c.-45 others(307): Show c.-45_-44insCCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG ATGCCAGCTGCA		GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/6				1051	INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176158	G G	GCGGGGTG others(293): Show GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGGCTGCCAGCTGCA C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	434	0.0023	300	c.-40 others(315): Show c.-40+274_-40+275insCAGGGTCGGATCCCAGCTGCACCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGA GAGCCTAGGCCAGGAGGGCACAGGGTCGGCTGCCAGCTGCACCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGA GAGCCTAGGCCAGGAGGGCA		GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176237	C C	CAGGGGCG others(293): Show CAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCA GAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCA GAGGGGCGGATGCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCA CAGGGTCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCA GAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCA GAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCA G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0192 a0001c0002t0003g0192	1	402	0.0025	300	c.-40 others(315): Show c.-40+285_-40+286insGCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCACAGGGTCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGAT		GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
GALR1_chr18_77244848_77282900	77252980	T T	TCACCACC others(293): Show TCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCATCA C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0213 a0001c0002t0018g0213	1	189	0.0053	300	c.666 others(317): Show c.666+1774_666+1775insCCACCACCACCATCACCACCACCACCAT CACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACC ATCACCACCATCACCACCACCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77258860	G G	GTGATGAT others(293): Show GTGATGATGGTGGTCATAGTGGTGATGGTGGTGGGCGGTAGTGGTGGTGA TGATGGTCATGGTGGTGATGATGGTGGTCATGGTGGTCATGGTGGCGATT GTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGG TGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTGGTCATGGTG GTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAG TGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGGTGGTTATGGTGGTGATG A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0119 a0008c0009t0119	a0008c0009t0119g0221 a0008c0009t0119g0221	1	364	0.0027	300	c.732 others(317): Show c.732+2639_732+2640insATGATGGTGGTCATAGTGGTGATGGTGG TGGGCGGTAGTGGTGGTGATGATGGTCATGGTGGTGATGATGGTGGTCAT GGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTC ACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGT GATGATGGTGGTCATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGG ATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCAT GGTGGTTATGGTGGTGATGATG		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(293): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	230	0.0043	300	c.-32 others(311): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAA		GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding					3044		chr10	TogoVar
GLB1L2_chr11_134326988_134381324	134369578	G G	GTGCTGGG others(293): Show GTGCTGGGATTATAGGTGTGAGCCACTGCACAAGCGATCCTCCTGCCTTG GCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACAAGCGATCC TCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCA CAAGCAATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACTGCACAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGAT TATAGGTGTGAGCCACTGCACAAGCGATCCTCCTGCCTTGGCCTCCCAAA T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	263	0.0076	300	c.102 others(317): Show c.1028-217_1028-216insATAGGTGTGAGCCACTGCACAAGCGATC CTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGC ACAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGT GAGCCACTGCACAAGCAATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGA TTACAGGTGTGAGCCACTGCACAAGCGATCCTCCTGCCTTGGCCTCCCAA AGTGCTGGGATTATAGGTGTGAGCCACTGCACAAGCGATCCTCCTGCCTT GGCCTCCCAAATTGCTGGGATT		GLB1L2	ENSG00000149328.16	transcript	ENST00000535456.7	protein_coding	10/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(293): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCCG C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	8	0.1250	300	c.31 others(311): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGG GCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2447		chr16	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129733	T T	TTATCTTC others(293): Show TTATCTTCTCCTCCTGCCTCCACATCTTCTCCTCCTGCTCCCGTATCTTC TCCTCCTGGTCGTGCATCTTCTCCTCCTGCCTCCACACCTTCTCCTCCTG CTTCCGTATCTTCTCCTGCTCGTGCATCTTCTCCTTTTGCCTCCATATCT CCTCCTGCTCCCTTATCTTCTCCTCCTGCCTCCGCATCTCCTCCTGCTCC TGCCTCTTCTCCTCCTCCCGTATCTTCTCCTGCTCGTGAATCTTCTCCTC CTGCCTCCACATCTTTTTCTCCTGCTCCCGTATCTTCTCTTCCTGCTCCC G	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01074.hp1 HG01074.hp1	a0027 a0027	a0027c0033 a0027c0033	a0027c0033t0001 a0027c0033t0001	a0027c0033t0001g0074 a0027c0033t0001g0074	1	196	0.0051	300	c.171 others(309): Show c.1719_1720insCGGGAGCAGGAAGAGAAGATACGGGAGCAGGAGAAA AAGATGTGGAGGCAGGAGGAGAAGATTCACGAGCAGGAGAAGATACGGGA GGAGGAGAAGAGGCAGGAGCAGGAGGAGATGCGGAGGCAGGAGGAGAAGA TAAGGGAGCAGGAGGAGATATGGAGGCAAAAGGAGAAGATGCACGAGCAG GAGAAGATACGGAAGCAGGAGGAGAAGGTGTGGAGGCAGGAGGAGAAGAT GCACGACCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATGTGGAGGC AGGAGGAGAAGATA	p.Ile others(313): Show p.Ile573_Arg574insArgGluGlnGluGluLysIleArgGluGlnGl uLysLysMetTrpArgGlnGluGluLysIleHisGluGlnGluLysIleA rgGluGluGluLysArgGlnGluGlnGluGluMetArgArgGlnGluGlu LysIleArgGluGlnGluGluIleTrpArgGlnLysGluLysMetHisGl uGlnGluLysIleArgLysGlnGluGluLysValTrpArgGlnGluGluL ysMetHisAspGlnGluGluLysIleArgGluGlnGluGluLysMetTrp ArgGlnGluGluLysIle	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1810/3822	1719/2007	573/668			chr15	TogoVar
GPR173_chrX_53043789_53085615	53074457	A A	AATAAATA others(293): Show AATAAATATAAATATATATTTATATTTATTTATAAATAAATATATATAAA TATATATATATATTTATATTTATTTATAAATAAATATATATAAATATATA TATATATTTATATTTATTTATAAATAAATATATATAAATATATATAAATA TATATTTATATTTATTTATAAATAAATATATATAAATATATATTTATATT TATTTATATATAAATATATAAATATATATTTATAGTTATTTATATATAAA TATATAAATATATATTTATAGTTATTTATATATAAATATATAAATCTATA T	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0011 a0001c0002t0007g0011	1	140	0.0071	300	c.-97 others(317): Show c.-97-2068_-97-2067insATAAATATAAATATATATTTATATTTAT TTATAAATAAATATATATAAATATATATATATATTTATATTTATTTATAA ATAAATATATATAAATATATATATATATTTATATTTATTTATAAATAAAT ATATATAAATATATATAAATATATATTTATATTTATTTATAAATAAATAT ATATAAATATATATTTATATTTATTTATATATAAATATATAAATATATAT TTATAGTTATTTATATATAAATATATAAATATATATTTATAGTTATTTAT ATATAAATATATAAATCTATAT		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1						chrX	TogoVar
GRK4_chr4_2958571_3045760	2961226	T T	TGTTAGTA others(293): Show TGTTAGTATATTAATATATATATATAGTAACTATATTAATAATATAGTTA GTATATTAATATATAGTAACTATATTAATATATACTAACTATATTAATAA TATAGTTAGTATATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0097 a0004c0004t0001g0097	1	135	0.0074	300	c.-28 others(311): Show c.-2845_-2844insGTTAGTATATTAATATATATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATATATAC TAACTATATTAATAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATA		GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding					2344		chr4	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(293): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCCTCCTCCCCCCCCCCTCCTCCCCCCCCTCCTCCTCCTCCTCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0180	1	175	0.0057	300	c.427 others(317): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCCTCCTCCCCCCCCT CCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(293): Show AAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGG TGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAG CCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02109.hp1 HG02451.hp2 HG00642.hp1 HG02109.hp1 HG02451.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0009 a0001c0003 a0006c0009	a0001c0003t0001 a0006c0009t0001 a0001c0003t0001 a0006c0009t0001	a0001c0003t0001g0044 a0006c0009t0001g0002 a0001c0003t0001g0044 a0006c0009t0001g0002	3	106	0.0283	300	c.-37 others(311): Show c.-3713_-3712insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTT		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					3704		chrX	TogoVar
GTPBP6_chrX_299759_323796	322500	A A	AAAAAAAA others(293): Show AAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGG TGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAG CCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0073 a0001c0003t0002g0073	1	149	0.0067	300	c.-37 others(311): Show c.-3714_-3713insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTT		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					3705		chrX	TogoVar
GTPBP6_chrX_299759_323796	322516	A A	AAAAGAAA others(293): Show AAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAG CTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACG CCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAA AAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCT GCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACC AGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAA G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0098 a0002c0005t0004g0098	1	153	0.0065	300	c.-37 others(311): Show c.-3730_-3729insCTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTT ACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCC ACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCG GCTAATTTTTTTCTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTAC CATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCAC CTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGGC TAATTTTTCTTTCTTT		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					3721		chrX	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(293): Show AGAATATAGAACATATATTCTATATAGAATATAGAATATATATTCTATAT AGAACATATATTCTATATAGAATATAGAATATATATTCTATATAGAATAT AGAATATATATTCTATATAGAATATAGAATATATATTCTATATAGAATAT AGAATATATATTCTATATAGAATATAGAATATATATTCTATATAGAATAT AGAATATATATTCTATATAGAATATAGAATATATATTCTATATTACATAT AGAATATAGAATATATATTCTATATAGAATATATATTCTATATAATATAT G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	3	0.3333	300	c.123 others(321): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATGTAATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTCTATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTCTATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTCTATATAGAATATATATT CTATATTCTATATAGAATATATGTTCTATATAGAATATATATTCTATATT CTATATAGAATATATGTTCTATATTC		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(293): Show AGAATATAGAACATATATTCTATATAGAATATAGAATATATATTCTATAT AGAACATATATTCTATATAGAATATAGAATATATATTCTATATAGAATAT AGAATATATATTCTATATAGAATATAGAATATATATTCTATATAGAATAT AGAATATATATTCTATATGGAATATAGAATATATATTCTATATGGAATAT AGAATATATATTCTATATAGAATATAGAATATATATTCTATATTACATAT AGAATATAGAATATATATTCTATATAGAATATATATTCTATATAATATAT G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	3	0.3333	300	c.123 others(321): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATGTAATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTCCATATAGAATATATATT CTATATTCCATATAGAATATATATTCTATATTCTATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTCTATATAGAATATATATT CTATATTCTATATAGAATATATGTTCTATATAGAATATATATTCTATATT CTATATAGAATATATGTTCTATATTC		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HPCAL1_chr2_10297904_10432604	10399208	G G	GCACCACC others(293): Show GCACCACCACCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAC CACCACCGCCACCACCGCCACCATCACCGCCACCACCATCACCATCACCA C	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	279	0.0036	300	c.-25 others(317): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCACCGCCACCACCGCCACCATCACCGCCACCACCATCACCATCACCAC CACCACCACCACCACCACCACC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HS3ST2_chr16_22809162_22921338	22818674	T T	TCCTTCCC others(293): Show TCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCATTCCTTCCCTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCATTCCT TCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCATTCCTTCCCTCCTTCCTTCCTTCCTTCCT C	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18522.hp2 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0285 a0001c0001t0001g0286	2	347	0.0058	300	c.485 others(317): Show c.485+3582_485+3583insTCCCTCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCCTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCATTC CTTCCTTCCTTCATTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCATTCCTTCCCTC CTTCCTTCCTTCCTTCCTCCCT		HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST3A1_chr17_13489032_13606929	13533514	T T	TGAAGTTA others(293): Show TGAAGTTATTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCT TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00642.hp2 others(19): Show HG00438.hp2 HG00544.hp2 HG00642.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01952.hp2 HG02132.hp1 HG03834.hp1 HG04204.hp2 NA18747.hp1 NA18948.hp1 NA18950.hp1 NA18961.hp1 NA18980.hp1 NA18988.hp1 NA19054.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0002c0003t0007 a0002c0004t0012 a0002c0004t0015 a0004c0008t0004	a0001c0001t0001g0174 a0001c0001t0002g0097 a0001c0001t0002g0268 others(19): Show a0001c0001t0001g0174 a0001c0001t0002g0097 a0001c0001t0002g0268 a0001c0001t0003g0118 a0001c0001t0003g0167 a0001c0001t0003g0173 a0001c0001t0003g0179 a0001c0001t0003g0233 a0001c0001t0003g0236 a0001c0001t0003g0254 a0001c0001t0003g0262 a0001c0001t0003g0270 a0001c0001t0006g0126 a0001c0002t0001g0125 a0001c0002t0001g0139 a0001c0002t0004g0012 a0001c0002t0004g0017 a0002c0003t0007g0283 a0002c0004t0012g0276 a0002c0004t0012g0284 a0002c0004t0015g0289 a0004c0008t0004g0014	22	277	0.0794	300	c.600 others(319): Show c.600-36697_600-36696insGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCACCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAATTAATAACTTC		HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1						chr17	TogoVar
HTR2C_chrX_114579086_114915061	114761888	T T	TGTGTATA others(293): Show TGTGTATATATACATATATGTGTATATATACACGTATATATACATATATG TGTATATATACGTGTATATATACATATATGTGTATATATACGTGTATATA TACATATATGTGTATATATACGTGTATATATACATATATGTGTATATATA CGTGTATATATACATATATGTGTATATATACGTGTATATATACATATATG TGTATATATACGTGTATATATACATATATGTGTATATATACGTGTATATA TACATATATGTGTATATATACGTGTATATATACATATATGTGTATATATA C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0017	1	171	0.0058	300	c.349 others(319): Show c.349+30311_349+30312insACGTATATATACATATATGTGTATAT ATACGTGTATATATACATATATGTGTATATATACGTGTATATATACATAT ATGTGTATATATACGTGTATATATACATATATGTGTATATATACGTGTAT ATATACATATATGTGTATATATACGTGTATATATACATATATGTGTATAT ATACGTGTATATATACATATATGTGTATATATACGTGTATATATACATAT ATGTGTATATATACGTGTATATATACATATATGTGTATATATACGTGTAT ATATACATATATGTGTATATATAC		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1R1_chr2_102137746_102184874	102138934	T T	TAGAAAAA others(293): Show TAGAAAAAGATCTCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0100 a0001c0001t0014g0100	1	388	0.0026	300	c.-41 others(311): Show c.-4170_-4169insAGAAAAAGATCTCACTTTGGGAGGCCGAGGCGGG TGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA		IL1R1	ENSG00000115594.12	transcript	ENST00000410023.6	protein_coding					3811		chr2	TogoVar
IMMP2L_chr7_110657644_111567492	111428573	T T	TAAAGAAA others(293): Show TAAAGAAATGTTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTC CAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02809.hp1 others(1): Show HG02257.hp1 HG02451.hp1 HG02809.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006	a0001c0002t0002g0066 a0001c0002t0004g0044 a0001c0002t0004g0058 others(1): Show a0001c0002t0002g0066 a0001c0002t0004g0044 a0001c0002t0004g0058 a0001c0002t0006g0065	4	81	0.0494	300	c.239 others(319): Show c.239+58664_239+58665insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGTGAACATTTCTTT		IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	3/5						chr7	TogoVar
INO80_chr15_40973880_41121280	41031591	G G	GAGGAAGG others(293): Show GAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAA GGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG GAGGGAGGAAGGGAGGAAAGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGA A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp1 HG02145.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0271 a0001c0001t0014g0272 a0001c0001t0014g0271 a0001c0001t0014g0272	2	255	0.0078	300	c.290 others(319): Show c.2908-3856_2908-3855insTTCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCTTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT CCCTTCCTCCCTTCCTCCCTTCCT		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar

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