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
RNF223_chr1_1065967_1079306	1076151	TGGGGACT others(559): Show TGGGGACTCCGTGGGGCAGGCTGAGGCTACGGTGACTCCGTGCAGGGCTG TGAGGCTACGGGGACTCCGTGGGGGGTGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCTGGGAGGC TGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGTCTATGGGGACTCCGT GGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATG GGGACTCCGTGGGGCAGGCTGAGGCTATGGTGACTCCGTGCAGGGCTGTG AGGCTACGGGGACTCCGTGGGGGGTGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02572.hp2 others(4): Show HG01884.hp2 HG02109.hp2 HG02572.hp2 HG02886.hp1 HG02970.hp1 HG03139.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0005 a0002c0002t0005g0005	7	309	0.0227	-566	c.-27 others(11): Show c.-2711_-2146del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1846		chr1	TogoVar
TTLL8_chr22_50013575_50063298	50028645	CCCCATCA others(559): Show CCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCAT CACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG TCCTAAAGACCCCCACATACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGACCCCCATCACGCTGTCCTAAAGACCC CCACATACCCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCACAT ACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACACACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAAA GACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCA TCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACC ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0124 a0004c0004t0001g0124	1	210	0.0048	-566	c.225 others(19): Show c.2251+1219_2251+1784del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
VIPR2_chr7_159023175_159149867	159087194	TGGCTTCC others(559): Show TGGCTTCCCCAACAAACAATACCCAGGACTCGGATAGTGAGATACGGCTT CCCAACAAACAATAACCACACTCTGCCAGGATTCTGATAGTGAGATACAG CTTCTCCAACAAACAATACCCAGGACTCTGATAGTGAGATACAGCTTCCC CAACAAACAATACACAGGATCCTCATAGTGAGATACGACTTCCCCAACAA ACAATAACCACACTCTGCCAGGACTCTGATAGTGAGATACGGCTTCCCCA ACAAACAATACCCAGGACTTGGATAGTGAGATACGGCTTCCCCAACAAAC AATACCCAGGACTCAGATAGTGAGATACAGCTTCCCCAACAAACAATACC CAGGACTCGGATAGTGAGATACGGCTTCCCAACAAACAATAACCACACTC TGCCAGGATTCTGATAGTGAGATACAGCTTCTCCAACAAACAATACCCAG GACTCTGATAGTGAGATACAGCTTCCCCAACAAACAATACACAGGATCCT CATAGTGAGATACGACTTCCCCAACAAACAATAACCACACTCTGCCAGGA CTCTGATAGTGAGATAC	T T	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0128 a0001c0003t0003g0128	1	334	0.0030	-566	c.357 others(19): Show c.357+15997_357+16562del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
ARHGEF10_chr8_1818926_1963641	1889453	GGGTGAGG others(558): Show GGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGG AGACACTGAGTGGGGTGAGGGGTATTGAGGAGACACTGAGTAGGGTAAGG AGTCTGTGTGGAGACACTGAGTGGGGTGAGGGGTTTGTGAGGAGACACTG AGTGTGGGTGAGGGGTCTGTGAGGAGTCATGGAGTGTGGTGTGAGTTGTG AGAAAACTCGGAGTGGGGTGAGGGTCGTGAGGAAACAGTGGGGTGAAGGT TTGTGAGGAGACCCTGAGTGGAGTGAGGGTTGCGAGGAGACATTGAGTGG GATGAGGGTTGTGAGGAGACACTGAGTGGGGTGAGGGTTGTGAGCAGACA CTTCATGGGAGGAGGGTTTGTGAGAAGACACTAGGTGGGGTGAGGTTTGT GAGGAGACACTGAGTGTGGTGAGGGTTTGTGAGGAGACACTGCATGGGGT GAACTTTGTTAGGAGGCAGTGAGTGGGGCGAGGGTTGTGAGGAGACACTG AGTGGGGGAGGGGTATGTGAGGAGACACTGAGTGATGTGAGCAATCTGTG AGGAGACACTGAGTGC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0141 a0001c0141	a0001c0141t0007 a0001c0141t0007	a0001c0141t0007g0310 a0001c0141t0007g0310	1	344	0.0029	-565	c.118 others(19): Show c.1182+3757_1183-3541del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
BANK1_chr4_101785730_102079812	101866629	TAGGAATA others(558): Show TAGGAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAG GACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC AGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC GCCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAATTTAA AAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp1 others(108): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01934.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp2 NA18949.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18965.hp2 NA18966.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18986.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19054.hp1 NA19064.hp1 NA19064.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0010	a0001c0001 a0001c0002 a0001c0017 others(5): Show a0001c0001 a0001c0002 a0001c0017 a0003c0004 a0004c0005 a0004c0009 a0005c0006 a0010c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0017t0003 a0003c0004t0001 a0003c0004t0003 a0004c0005t0001 a0004c0009t0001 a0004c0009t0002 a0005c0006t0001 a0005c0006t0003 a0005c0006t0004 a0010c0019t0004	a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0091 others(107): Show a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0244 a0001c0001t0003g0017 a0001c0001t0003g0083 a0001c0001t0003g0123 a0001c0001t0003g0137 a0001c0001t0003g0275 a0001c0001t0004g0127 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0002t0001g0046 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0283 a0001c0002t0002g0124 a0001c0002t0002g0161 a0001c0002t0002g0203 a0001c0002t0002g0282 a0001c0002t0003g0001 a0001c0002t0003g0015 a0001c0002t0003g0047 a0001c0002t0003g0054 a0001c0002t0003g0107 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0142 a0001c0002t0003g0157 a0001c0002t0003g0166 a0001c0002t0003g0168 a0001c0002t0003g0231 a0001c0002t0003g0233 a0001c0002t0003g0247 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0281 a0001c0002t0004g0126 a0001c0002t0004g0128 a0001c0002t0004g0129 a0001c0002t0004g0131 a0001c0002t0004g0133 a0001c0002t0004g0135 a0001c0002t0004g0136 a0001c0017t0003g0118 a0003c0004t0001g0004 a0003c0004t0001g0006 a0003c0004t0001g0011 a0003c0004t0001g0013 a0003c0004t0001g0016 a0003c0004t0001g0057 a0003c0004t0001g0058 a0003c0004t0001g0121 a0003c0004t0001g0140 a0003c0004t0001g0144 a0003c0004t0001g0145 a0003c0004t0001g0165 a0003c0004t0001g0194 a0003c0004t0001g0204 a0003c0004t0001g0205 a0003c0004t0001g0234 a0003c0004t0001g0235 a0003c0004t0001g0236 a0003c0004t0001g0249 a0003c0004t0001g0250 a0003c0004t0001g0251 a0003c0004t0001g0252 a0003c0004t0001g0257 a0003c0004t0001g0271 a0003c0004t0001g0280 a0003c0004t0003g0048 a0003c0004t0003g0119 a0003c0004t0003g0125 a0003c0004t0003g0139 a0003c0004t0003g0232 a0003c0004t0003g0256 a0004c0005t0001g0012 a0004c0005t0001g0073 a0004c0005t0001g0080 a0004c0005t0001g0082 a0004c0005t0001g0117 a0004c0005t0001g0154 a0004c0005t0001g0155 a0004c0005t0001g0156 a0004c0005t0001g0158 a0004c0005t0001g0172 a0004c0005t0001g0211 a0004c0005t0001g0212 a0004c0009t0001g0116 a0004c0009t0001g0237 a0004c0009t0002g0170 a0005c0006t0001g0279 a0005c0006t0003g0005 a0005c0006t0003g0246 a0005c0006t0003g0248 a0005c0006t0003g0253 a0005c0006t0003g0254 a0005c0006t0003g0255 a0005c0006t0003g0277 a0005c0006t0003g0278 a0005c0006t0004g0122 a0010c0019t0004g0055	111	282	0.3936	-565	c.764 others(17): Show c.764-3874_764-3310del	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
CNTNAP4_chr16_76272401_76565757	76472025	ACTATCAC others(558): Show ACTATCACTTTAGGTTTGGGTATGTTGATGTAAGCATTTGTTCAAGTTCA CAAGCAATGGAAAGGATGGCAATGTCCAAGGAAAAGCTTTCGTGGCTAGA GAAAATGGGTTAATCAATTGTCTTATCTTGTATTGGAGTGAGTAGGGAGG AGAAAAGTGTAAAATACAATGGTTTAGAACATTTGGTGAGAATGAGTACT ATAGAACCTAAATTGCCATAGGTTACTAGTAGTAAACATTATGATAATAT AATGACTTTAAATAAAATTCACAATTTAATCTTTCACATTTGAATTAAAA ATAGGAAAAATCTAGTCTAACAAGAATCAAGAAAAATTGACTCAGTTGGT CTTTTTGAAGCAGATCAAATAGAAATAACATATGTATCACAACCATTTAA GAGTCATTCTTTTGGATTTTAGGCAAAGCCACTTATGTTGAACTCTTTTT AAAACATGGTTTGAGGTTTGCTATAGAATAGCCTTTGGTTTTACGTTCCT GCATTAGTTTGCTAAGGAAGTGGCCTCCAGCTCCATCTATGTTCCTGCAA AGGACGTGATGTCATT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG01081.hp2 HG02895.hp1 HG02897.hp2 NA20300.hp2	a0001 a0026 a0001 a0026	a0001c0001 a0001c0004 a0026c0034 a0001c0001 a0001c0004 a0026c0034	a0001c0001t0015 a0001c0004t0006 a0026c0034t0006 a0001c0001t0015 a0001c0004t0006 a0026c0034t0006	a0001c0001t0015g0099 a0001c0001t0015g0272 a0001c0004t0006g0225 others(1): Show a0001c0001t0015g0099 a0001c0001t0015g0272 a0001c0004t0006g0225 a0026c0034t0006g0209	4	272	0.0147	-565	c.165 others(19): Show c.1656-3911_1656-3347del	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
DDX51_chr12_132131594_132149319	132134897	CCCGAGTG others(558): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCAC GGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTC CCACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTATGCCCCGGT GCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCAC CTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGC CCGCTACCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 NA19007.hp1 HG03579.hp2 NA19007.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0018 a0004c0004t0006 a0002c0002t0018 a0004c0004t0006	a0002c0002t0018g0028 a0004c0004t0006g0030 a0002c0002t0018g0028 a0004c0004t0006g0030	2	327	0.0061	-565	c.38 others(11): Show c.3810_*4374del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1696		chr12	TogoVar
PDS5B_chr13_32581452_32783019	32596635	TTACATCC others(558): Show TTACATCCTCACCAACACTTGGTTAGTCAATCTTTTTAATTTTAGCTATT CTAGTGGGTGTGGAAGGGTATCTCATTGTGGTTTTATTTTGGATTTCCTT GATATCTAGTGATGTTGAGCACCTTTTTGCATGGTTGTTGACAGTATATT TTCTTTCGTAGGATGCCTCTTCAAGCTTTCTGCCCATTAAAAAATGGATT ATCTTTTTACTATTGATATGCAGGAATTCTTAATGTACTCACGATACAAA TTCTATGTCAGATCAGAGTATTAAGAGTATTTTCTCCTGTTTTGTAGCTT GCCTTATCTTTTTTTTAACAGTATTTTGATGAGTGGAAGTTTTAAAATTT GATGAAGTCCAGTCAATCAACTTTTTGTTTTATGGATTGTGCTTTGAGTT CTTTTTATTTTTTATTTTTTTGAGACAGCGTCTCACTCTCCCAGGCTAGA GTTTAGTGGCGCCATCATAGCTCACTGCAGCCTGGAACTTTTGGGCTCAA GCCACCCTCCTATCTCAGCCTCCTGAGTAGCTGGGTCTACAGATACGTGC CACCATGGCTGGCTCA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0219 a0001c0001t0008g0219	1	332	0.0030	-565	c.-20 others(19): Show c.-20+10044_-20+10608del	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
SNTG2_chr2_945849_1372613	1343615	CCCCTGTT others(558): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCC CAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGG GAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTG GGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGG ACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTT TTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGC TTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGA GTGGACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02165.hp1 HG02071.hp2 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0137 a0001c0002t0001g0014 a0001c0002t0001g0137	2	183	0.0109	-565	c.148 others(21): Show c.1489-23724_1489-23160del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343728	CCCCTGTT others(558): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCC CAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGG GAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCT GGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGG GACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACT TTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGC TTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGA GTGGACTGGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp1 HG02630.hp1 HG03209.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0004t0001g0180 a0004c0004t0001g0181	2	186	0.0108	-565	c.148 others(21): Show c.1489-23611_1489-23047del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343954	CCCCTGTT others(558): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGC CCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTG GGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCT GGGCACGCCTGGCCCAGCTCTGTAGGACAGTGGCAGCTTCCTCTCACTGG GACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACT TTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGC TTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGA GTGGACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01257.hp2 HG03710.hp1 HG00735.hp1 HG01257.hp2 HG03710.hp1	a0003 a0003	a0003c0007 a0003c0008 a0003c0007 a0003c0008	a0003c0007t0001 a0003c0008t0001 a0003c0007t0001 a0003c0008t0001	a0003c0007t0001g0080 a0003c0008t0001g0059 a0003c0008t0001g0096 a0003c0007t0001g0080 a0003c0008t0001g0059 a0003c0008t0001g0096	3	186	0.0161	-565	c.148 others(21): Show c.1489-23385_1489-22821del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TUBGCP2_chr10_133273635_133313872	133291220	AGAGAGGG others(558): Show AGAGAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCC CATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTC CCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCG TGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCA CCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCC CGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCC GTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTC CCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCC CCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGG AGCCCTACCTGTACGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	281	0.0036	-565	c.121 others(18): Show c.1214+714_1215-1252del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ARRDC5_chr19_4885437_4907896	4885592	CTCGGGAG others(557): Show CTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGACATTGCACTACTGCACTCCAGCCTGGCAACACAGCAAGA CTCTGTCTTAAATAAATAAATCAATAAAGTGTCTTAGTTGGTCCCACCCT ATGGAGAGGCTGGGTTTTCCGGAATCTGCTGGAATGTGGCAGGGGTCACT AAATGCAAATGTGTCATGGCTGCAGGGTTGACAGACACCCTGCAGCAAGA GGGAGGGAGGTACCAGTATGTTGCAGTTCGAAGGTGGCTGGAGAAGTATT TCAGGGCCATTCCCCCAAGAAGACAAACCCTGGATCAGTCTTTTTAAAAT TTAATTTAATTTTAGTATTATAAAGAAAAATTTAAAAAACAGGCCGGGCG TGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG ATCACGAGGTCGGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCC GTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGCGGCGGACACC TATAGTCCCAGCTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 NA18939.hp2 others(5): Show HG03491.hp1 HG03492.hp1 NA18939.hp2 NA18955.hp2 NA18960.hp2 NA18968.hp1 NA19009.hp1 NA19083.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0227 others(5): Show a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0004c0009t0001g0305	8	410	0.0195	-564	c.48 others(11): Show c.4890_*5453del	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		4844		chr19	TogoVar
BRSK2_chr11_1384934_1467689	1430118	GTCTGGTC others(557): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0293 a0002c0002t0007g0293	1	344	0.0029	-564	c.92- others(15): Show c.92-5921_92-5358del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430165	GTCTGGTC others(557): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp1 HG00323.hp1 HG01109.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0005 a0001c0001t0006 a0002c0002t0005	a0001c0001t0006g0211 a0002c0002t0005g0214 a0001c0001t0006g0211 a0002c0002t0005g0214	2	347	0.0058	-564	c.92- others(15): Show c.92-5874_92-5311del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
CAMK1D_chr10_12344547_12840545	12775556	AGGTGAGA others(557): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01928.hp1 NA18948.hp2 others(3): Show HG01168.hp2 HG01928.hp1 NA18948.hp2 NA18983.hp2 NA18989.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0036 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0036 a0001c0002t0004 a0001c0002t0021 a0001c0003t0007	a0001c0001t0001g0015 a0001c0001t0001g0175 a0001c0001t0036g0125 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0175 a0001c0001t0036g0125 a0001c0002t0004g0091 a0001c0002t0021g0048 a0001c0003t0007g0063	6	214	0.0280	-564	c.565 others(17): Show c.565+5759_565+6322del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCNY_chr10_35331509_35577667	35370386	TGTGATCC others(557): Show TGTGATCCGCCTGCTTCGGCCTCCCAGAGTGTTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGTTCCTCATCCATATTCTTTTGGTGTTTATGTATA CTTGCTCTGTGCCTGGAAACAGGCTAAGTATGAAGCCTAAATTGAACATT GTCATTATAAATTTAGCTAACTATAGACCTTGGATGATAATGACTAGGAA TCTTCTCTGGCTCTGTTTTTATTGTGTGCAGTTATTCCAGAGACTGGCCA GGTAGTGTGAAGTGCCTTATATTTCCCTATTACAACACTTTTCTTCCTTT GGTTAACTATCTGATCTTGGATAAAACTATTTTATTTTATTTTTTTTTGA GATGGAGTCTCGCACTTTCGCCCAGGCTGGAGTGCAGTGGGGCCATCTTG GCTCACTACAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGAGACTACAGGCACCTGCCACCACGCCCGGCTAATTT TGTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCT CGATCTCCTGACCCA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp2 HG02818.hp1 others(5): Show HG02559.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0008 a0001c0001t0009 a0003c0004t0009 a0001c0001t0008 a0001c0001t0009 a0003c0004t0009	a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0139 others(5): Show a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0139 a0001c0001t0008g0140 a0001c0001t0009g0142 a0003c0004t0009g0135 a0003c0004t0009g0136 a0003c0004t0009g0141	8	294	0.0272	-564	c.154 others(19): Show c.154+33188_154+33751del	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPH7_chr9_137549444_137583925	137567394	TGGGTGAC others(557): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTG ACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp1 others(23): Show HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00597.hp2 HG00639.hp2 HG00738.hp1 HG01070.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02129.hp2 HG02148.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03927.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18973.hp2 NA18979.hp2 NA18982.hp2 NA19005.hp2 NA19009.hp2 NA19079.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0019 others(20): Show a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0143 a0001c0001t0002g0253 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0005g0297	26	310	0.0839	-564	c.641 others(17): Show c.641-2804_641-2241del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
FOXN3_chr14_89151177_89422233	89362210	GCACCACC others(557): Show GCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACC ACCACCTCCTCCTCCTCCACCACCACCACCTCCACCACCACCACCACCAC CTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCACCTCCT CCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCACC ACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGCTCCAC CACCTCCTCCTCCACCACCACCACCACCACCACCACCATCTCCACCACCA CCACCACCATCTCTACGACCACCACCACCACCATCTCCACCACCACCTCC ACCACCACCACCACCACCATCTCTACGACCACCACCACCACCACCATCTC TACGACCACCACCACCTCCACCACCATCTCCACCACCACCACCACCATCT CCACCACCACCTCCACCACCATCTCCACCACCACCACCACCACCACCACC ACCACCACCATCTCCACCACCACCTCCACCACCATCTCCACCACCACCAC CACCACCACCACCAC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0165 a0001c0001t0051g0165	1	90	0.0111	-564	c.544 others(19): Show c.544-11966_544-11403del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GRTP1_chr13_113319163_113369130	113346254	GAGAGCAG others(557): Show GAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCT CTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCC AGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGA GCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCT GTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGG GAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGA GCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCT GTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGG GAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGC AGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGT GGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGA GGACCTCTGTGGACA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	268	0.0037	-564	c.466 others(17): Show c.466-1859_466-1296del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346501	CGGGAGGA others(557): Show CGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAA AGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACC TCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACC TGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTC TGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCG GGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAG AGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTC TGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGG AGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAG CGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTG TGGCTGAGCGGATCT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18995.hp1 NA19064.hp1 others(2): Show NA18963.hp2 NA18995.hp1 NA19064.hp1 NA19070.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0193 a0001c0001t0001g0214 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0193 a0001c0001t0001g0214 a0001c0001t0001g0228	5	246	0.0203	-564	c.466 others(17): Show c.466-2106_466-1543del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347200	GGCCGAGA others(557): Show GGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGA GGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGG ATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGG CCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGG ACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAG ACCCAGGAGGATCTCTGTGGCCGAGAGCAGACCTGGGAGGACCTCTGTGG CCGAGAGCGGACCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGGAGGAC CTCTGTGGCAGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAACAGAC CCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCT GAGCAGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCT CTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCC GGGAGGACCTCTGAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	275	0.0036	-564	c.466 others(17): Show c.466-2805_466-2242del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
KNDC1_chr10_133155219_133231412	133222580	TGTGTGTG others(557): Show TGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTCTG TGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTG TGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGCATGAG AGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGCGTGTGCGTGAGAGCC CATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGG CATGCTCTTCCCGGCGTGTGTGTGTGTGTGTGAGAGCCCATCCAGCCATG CTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCC GGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTG TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTG TGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCC CATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGG CATGCTCTTCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp2 others(127): Show HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0005 a0007 a0008 a0010 a0012 a0014 a0016 a0018 a0019 a0025 a0027 a0028	a0001c0001 a0001c0068 a0002c0002 others(27): Show a0001c0001 a0001c0068 a0002c0002 a0002c0005 a0002c0006 a0002c0022 a0002c0041 a0002c0058 a0002c0061 a0004c0007 a0004c0024 a0004c0028 a0004c0063 a0005c0012 a0005c0021 a0005c0048 a0005c0065 a0007c0009 a0008c0013 a0010c0051 a0012c0023 a0012c0060 a0014c0029 a0016c0066 a0016c0067 a0018c0042 a0019c0046 a0025c0059 a0027c0062 a0028c0069	a0001c0001t0002 a0001c0068t0002 a0002c0002t0002 others(34): Show a0001c0001t0002 a0001c0068t0002 a0002c0002t0002 a0002c0002t0010 a0002c0002t0011 a0002c0002t0013 a0002c0002t0014 a0002c0002t0021 a0002c0005t0002 a0002c0005t0020 a0002c0006t0002 a0002c0006t0008 a0002c0022t0002 a0002c0041t0002 a0002c0058t0002 a0002c0061t0002 a0004c0007t0002 a0004c0024t0002 a0004c0028t0002 a0004c0063t0002 a0005c0012t0002 a0005c0021t0002 a0005c0048t0002 a0005c0065t0002 a0007c0009t0002 a0008c0013t0002 a0010c0051t0002 a0012c0023t0002 a0012c0060t0002 a0014c0029t0002 a0016c0066t0002 a0016c0067t0002 a0018c0042t0002 a0019c0046t0002 a0025c0059t0002 a0027c0062t0002 a0028c0069t0002	a0001c0001t0002g0086 a0001c0001t0002g0191 a0001c0001t0002g0204 others(124): Show a0001c0001t0002g0086 a0001c0001t0002g0191 a0001c0001t0002g0204 a0001c0068t0002g0116 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0009 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0051 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0091 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0128 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0249 a0002c0002t0002g0254 a0002c0002t0010g0148 a0002c0002t0011g0151 a0002c0002t0013g0094 a0002c0002t0014g0033 a0002c0002t0021g0023 a0002c0005t0002g0041 a0002c0005t0002g0060 a0002c0005t0002g0074 a0002c0005t0002g0083 a0002c0005t0002g0089 a0002c0005t0002g0090 a0002c0005t0002g0112 a0002c0005t0002g0159 a0002c0005t0002g0160 a0002c0005t0002g0161 a0002c0005t0002g0213 a0002c0005t0002g0215 a0002c0005t0002g0225 a0002c0005t0020g0099 a0002c0006t0002g0278 a0002c0006t0002g0279 a0002c0006t0002g0283 a0002c0006t0002g0284 a0002c0006t0002g0289 a0002c0006t0002g0290 a0002c0006t0002g0291 a0002c0006t0002g0292 a0002c0006t0002g0295 a0002c0006t0002g0308 a0002c0006t0008g0311 a0002c0022t0002g0101 a0002c0041t0002g0271 a0002c0058t0002g0003 a0002c0061t0002g0065 a0004c0007t0002g0056 a0004c0007t0002g0057 a0004c0007t0002g0067 a0004c0007t0002g0071 a0004c0007t0002g0072 a0004c0007t0002g0081 a0004c0007t0002g0082 a0004c0007t0002g0177 a0004c0024t0002g0012 a0004c0028t0002g0134 a0004c0028t0002g0137 a0004c0063t0002g0022 a0005c0012t0002g0018 a0005c0012t0002g0025 a0005c0012t0002g0026 a0005c0012t0002g0053 a0005c0012t0002g0141 a0005c0012t0002g0250 a0005c0012t0002g0253 a0005c0021t0002g0285 a0005c0021t0002g0287 a0005c0048t0002g0173 a0005c0065t0002g0036 a0007c0009t0002g0131 a0008c0013t0002g0228 a0008c0013t0002g0229 a0008c0013t0002g0230 a0008c0013t0002g0231 a0008c0013t0002g0232 a0008c0013t0002g0233 a0008c0013t0002g0234 a0010c0051t0002g0118 a0012c0023t0002g0302 a0012c0060t0002g0100 a0014c0029t0002g0153 a0016c0066t0002g0113 a0016c0067t0002g0017 a0018c0042t0002g0277 a0019c0046t0002g0103 a0025c0059t0002g0009 a0027c0062t0002g0038 a0028c0069t0002g0170	130	330	0.3939	-564	c.501 others(19): Show c.5019-2067_5019-1504del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133222622	TGTGTCTG others(557): Show TGTGTCTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTG TGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTG TGCATGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGCGTGTGCG TGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCC CATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGTGAGAGCCCATC CAGCCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATG CTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCC AGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTG TGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCC CATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGG CATGCTCTTCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03516.hp2 HG06807.hp2 HG01243.hp1 HG03516.hp2 HG06807.hp2	a0003 a0026 a0003 a0026	a0003c0015 a0003c0032 a0026c0030 a0003c0015 a0003c0032 a0026c0030	a0003c0015t0002 a0003c0032t0008 a0026c0030t0008 a0003c0015t0002 a0003c0032t0008 a0026c0030t0008	a0003c0015t0002g0236 a0003c0032t0008g0305 a0026c0030t0008g0306 a0003c0015t0002g0236 a0003c0032t0008g0305 a0026c0030t0008g0306	3	330	0.0091	-564	c.501 others(19): Show c.5019-2032_5019-1469del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LPP_chr3_188149157_188895671	188784927	TATATATA others(557): Show TATATATATTCCATCATATATATATATTCCATCATATATATATATTCCAT CATATATATATATTCCATCATATATATATATTCCATCATATATATATTCC ATCATCATATATATATTCCATCATATATATATATTCCATCATATATATAT ATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATAT ATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCAT ATATATATATTCCATCATATATATATATTCCATCATATATATATTCCATC ATATATATATATTCCATCATATATATATATTCCATCATATATATATATTC CATCATATATATATTCCATCATATATATATATTCCATCATATATATATAT TCCATCATATATATATATTCCATCATATATATATATTCCATCATATATAT ATATTCCATCATATATATATATTCCATCATATATATATATTCCATCATAT ATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCAT ATATATATATTCATC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0005 a0001c0006t0033g0005	1	74	0.0135	-564	c.141 others(21): Show c.1410+24654_1410+25217del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
NOC4L_chr12_132139457_132157468	132149576	CACACCAC others(557): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	290	0.0034	-564	c.901 others(15): Show c.901+682_902-841del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
PDS5B_chr13_32581452_32783019	32596636	TACATCCT others(557): Show TACATCCTCACCAACACTTGGTTAGTCAATCTTTTTAATTTTAGCTATTC TAGTGGGTGTGGAAGGGTATCTCATTGTGGTTTTATTTTGGATTTCCTTG ATATCTAGTGATGTTGAGCACCTTTTTGCATGGTTGTTGACAGTATATTT TCTTTCGTAGGATGCCTCTTCAAGCTTTCTGCCCATTAAAAAATGGATTA TCTTTTTACTATTGATATGCAGGAATTCTTAATGTACTCACGATACAAAT TCTATGTCAGATCAGAGTATTAAGAGTATTTTCTCCTGTTTTGTAGCTTG CCTTATCTTTTTTTTAACAGTATTTTGATGAGTGGAAGTTTTAAAATTTG ATGAAGTCCAGTCAATCAACTTTTTGTTTTATGGATTGTGCTTTGAGTTC TTTTTATTTTTTATTTTTTTGAGACAGCGTCTCACTCTCCCAGGCTAGAG TTTAGTGGCGCCATCATAGCTCACTGCAGCCTGGAACTTTTGGGCTCAAG CCACCCTCCTATCTCAGCCTCCTGAGTAGCTGGGTCTACAGATACGTGCC ACCATGGCTGGCTCA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03225.hp1 NA20129.hp1 HG02717.hp2 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218	3	332	0.0090	-564	c.-20 others(19): Show c.-20+10044_-20+10607del	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34			chr13	TogoVar
SHC2_chr19_411589_466033	431432	CGGGCAGA others(557): Show CGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATAGCGCTTCA TCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATG GCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCA GATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAG GCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGA GGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGA GAGATAGAGGAGGCG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0034 a0001c0001t0011g0034	1	210	0.0048	-564	c.111 others(18): Show c.1111-1249_1111-686del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
CLEC1B_chr12_9988075_10004121	10002011	CTGGGAGT others(556): Show CTGGGAGTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTGTATTT TTAGTAGAGACGCGGTTTCACCGTGTTAGTCAGGATGGTCTTGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC TTTAGCTACCGCGCCTGGCCTAAAAAAATTCTTTATTCCAAATTTCCTGA TGAAATTGAATTTAAAATAAAACCTTTTATTCATTCAATATTTTACAGAT TAAGAACACTCTAAATTGTCTGTTTTAAAGGAAATATTTAATGAATGTTA ATTATGTTTCAGACACTGAAATTGGTGCTGAGTATTCATGGAGAAAAATC ATGAGGTTAGTCTTTATGAAGCAGAGTGTTAGATTTTAGCTATGTGAACT TCTTTAAAAAAATTTACAAGTTGGGTAATGTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACCCCATTCTCCTGCCACA GCCTCCCAAGTAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	460	0.0022	-563	c.-34 others(11): Show c.-3474_-2912del	CLEC1B	ENSG00000165682.15	transcript	ENST00000298527.11	protein_coding		2891		chr12	TogoVar
SLC17A9_chr20_62947709_62974585	62971564	TTGAGTTG others(556): Show TTGAGTTGTGTGACCCTGTGTTTGAATGTGTGTGGGAGCGTGTGTGTCTG TGTATTTATGAGTTGTGTGACCCTATGTTTGAATGTGTGTGGGAGCGGGT GTGTGTGTGTATTTATGAGTTGTGTGACCCTGTGTTTGTGTGTGGGAGCA TGTGTGTCTGTGTGTGTATTTATGAGTTGTGTGACCCTGTGTTTGAGTGT GTGTGGGAGAATGTGTGTCTGTGTATTTATGAGTTGAGTGACCCTGTGTT TGAATGTGTGTGGGAGTGTGTGTGTCTGTGTATTTATGAGTTGTGTGACC GTTTGTGTGTGGAAGCATGTGTGTCTGTGTGTGTATTTATGAGTTGTATG ACCTTGTGTTTGAGTGTGTGGGAGCGTGTAGTGTCTGTGTGTTTATGAGT TGTGTGACCCTGTGTTTGAGTGTGTGTGGGAGCATGCGTCTGTGTGTGTA TTTATGAGTTGTGTGACCCTGTGTTTGAATGTGTGTGGGAGCGTGTGTGT CTGTGTATTTGAGTTGTGTGACCCTGTGTTTGAGTGTGTGTGGGAGAATG TGTGTGTGTGTGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18969.hp1 NA19054.hp2 others(2): Show NA18940.hp1 NA18969.hp1 NA19054.hp2 NA19083.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0178 a0001c0003t0001g0017 a0001c0003t0001g0178	5	430	0.0116	-563	c.40 others(11): Show c.4065_*4627del	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding		1980		chr20	TogoVar
C7orf50_chr7_992006_1143247	1128591	CCACCGTC others(555): Show CCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCAC CGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGT GCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAG TGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGC GCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGAGTGCAGTGGCGCGA TCTCAGCTCATCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03209.hp2 HG06807.hp2 others(1): Show HG02258.hp1 HG03209.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008	a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0007g0164 others(1): Show a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0007g0164 a0001c0001t0008g0165	4	306	0.0131	-562	c.-1- others(15): Show c.-1-1767_-1-1206del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128623	CATCTCGG others(555): Show CATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGG CTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCT CATCGCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATC CCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCAC CCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCC TGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGGGC TGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCGGGCTGGA GTGCAGTGGCGCG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02132.hp2 NA18945.hp2 others(1): Show HG02027.hp2 HG02132.hp2 NA18945.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074	4	291	0.0137	-562	c.-1- others(15): Show c.-1-1799_-1-1238del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128683	CCACCGTC others(555): Show CCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCAC CCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCC TGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTG TCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTGGAGT GCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGAGTGCAG TGGCGCGATCTCAGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGC GCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCA TCTCGGCTCATCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0301 a0002c0002t0003g0301	1	268	0.0037	-562	c.-1- others(15): Show c.-1-1859_-1-1298del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CNN2_chr19_1021608_1044065	1033758	GACGGTGT others(555): Show GACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTG TAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGG GTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGA GCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACG GTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGG GACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGT CTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGA GCGTGGGTGGGAC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0140 a0001c0011t0004g0140	1	369	0.0027	-562	c.390 others(17): Show c.390+1117_390+1678del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
DHX36_chr3_154267546_154329487	154288183	AAAAACCA others(555): Show AAAAACCATAGCTAAAGCAACAATACATTTGAATCTCATAATATTAAGTG AAATAATCCAGAGCTCTGCTCCCTCAAAGAACAAAAAAACCACACACATT CTGTATGGGTTCATGTAAAGTTCACAAAATAGGCAAAACTGAACTCTTTA TGAAGATGCATACTTGTAAAAACCATCAAAAAAAAAAATCAAGCCATTAT AGTTAAAGTCATGATAGAGGTTATCTATCATGATTGGGATTAAGGGACAG TGGAGTGATTATGAGAGGGTAGGAAGGGGGCTTTTAGCATACTGGGAATG TTCTTCTTGATGTAAGTAATTACTACATAGTCCTTCCTTTGTGATAAATC ATTTAGCTGCATATTTGTTTTACTCGCCAGTAATTAAAGACCAGTAACTT AAAAATTTCAAATTTTATGTAATCTTAAATCAAGCCTACAATAAAAAAAA ATGTGCAAAAAGATCCTAGTCTTTTAAGAATTATTACGAAGATATCACTT TATAACTTTCTAATGCCTATCTCATAACCTGATAGTTCTAAATTGATAGT CAAATAGCCAATC	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	364	0.0027	-562	c.203 others(17): Show c.2031+121_2031+682del	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	17/24			chr3	TogoVar
ERC1_chr12_986223_1500931	1121947	ATCTCTAT others(555): Show ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTCTATCTCTATCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTAT CTATCTATCTCTATCTCTATCTCTATATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCT CTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTAT CTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCT CTATCTCTATCTC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG03225.hp2 HG01243.hp1 HG02258.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0018 a0002c0002t0008 a0002c0002t0066 a0001c0001t0018 a0002c0002t0008 a0002c0002t0066	a0001c0001t0018g0074 a0002c0002t0008g0155 a0002c0002t0066g0134 a0001c0001t0018g0074 a0002c0002t0008g0155 a0002c0002t0066g0134	3	154	0.0195	-562	c.156 others(19): Show c.1569+5916_1569+6477del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
KNDC1_chr10_133155219_133231412	133222582	TGTGTGTG others(555): Show TGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTCTGTG TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTG TGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGCATGAGAG CCCATCCAGGCATGCTCTTCCCGGCGTGTGTGCGTGTGCGTGAGAGCCCA TCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCA TGCTCTTCCCGGCGTGTGTGTGTGTGTGTGAGAGCCCATCCAGCCATGCT CTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGG CGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTG TGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCA TCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCA TGCTCTTCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0023 a0023	a0023c0057 a0023c0057	a0023c0057t0002 a0023c0057t0002	a0023c0057t0002g0078 a0023c0057t0002g0078	1	330	0.0030	-562	c.501 others(19): Show c.5019-2067_5019-1506del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
OTOGL_chr12_80094537_80385880	80286990	TAGATCAT others(555): Show TAGATCATTCCCGCCTTCTGATGTGGGCATTTAGATTTATAGGGACATTT ATAAATTTGCCTCTAAACACTGCTTTAGCTGTGTCCCAGAGATTCTGGTA CGTTGTGTCTTTGTTCTCACTGGTTTCAAAGAACTTATTTATTTCTGTCT TAATTTAGTTATTTACCTAGTAGTCATTCAGGAGCACGTTGTTCAGTTTC CATGTAGTTGTGCAGTTTTGAGTGGGTTTCTTAATCCTGAGTTCTAATTT GATTGCAGTGTGGTCTGAGAGACTGTTTGTTATGAATTCCATTCTTTTGC ATTTGCTGAGGAGTGTTTTACTTCCAATTACGTGGTCAATTTTAGAATAA GTGTGATGTGGTGCTAAGAAGAATGTATATTCTGTTGATTTGGGGTGGAG AGTTCTGTAAGTGTCTATTAGGTCTGCCTGGTCCAGAGCTGAGTTCCAGT CCTGAATATCCTTGTTAATTTTCTGTCTTGTTGATATGTCTCATATTGAC AGTGGGGTGTTAAAGTCTCCCACTATTATTGTGTGAGAGTCTAAGTCTCT TTGTTCGTCTCTA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0007 a0007	a0007c0031 a0007c0031	a0007c0031t0015 a0007c0031t0015	a0007c0031t0015g0163 a0007c0031t0015g0163	1	166	0.0060	-562	c.292 others(19): Show c.2928+7828_2928+8389del	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	26/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZNF512B_chr20_63951704_63974930	63964914	CACCACTG others(555): Show CACCACTGTTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTCACCACT GTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCT GACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCCGACC TGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACG AGCCCCCATACCTTTTCTCACCACTGTTCCCTGACCTGGAACGAGCCCCC ATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCCATACCTT TTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCAC CACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTT CCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGAC CTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCTGACCTGGGAC GAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCC CATACCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	353	0.0085	-562	c.103 others(17): Show c.1034+665_1035-199del	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144624682	TCACTGCA others(554): Show TCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCA CTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGC ACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAG CACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGA GCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGG AGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACG GAGCACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCAC GGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCA CGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTC ACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTT CACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGT TCACGGAGCACC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	154	0.0065	-561	c.-81 others(19): Show c.-81-19548_-81-18988del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
CFAP46_chr10_132803392_132947570	132914022	CCCCCGCC others(554): Show CCCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTG TGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA CCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGT GTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCAC CCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTG TCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACC CCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGT CCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCC CGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTC CAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCC GGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCC AGCCACACTGCA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG04228.hp2 NA18939.hp2 others(1): Show HG01346.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0096 a0003c0012 a0007c0008 others(1): Show a0001c0096 a0003c0012 a0007c0008 a0007c0083	a0001c0096t0002 a0003c0012t0002 a0007c0008t0002 others(1): Show a0001c0096t0002 a0003c0012t0002 a0007c0008t0002 a0007c0083t0002	a0001c0096t0002g0033 a0003c0012t0002g0055 a0007c0008t0002g0076 others(1): Show a0001c0096t0002g0033 a0003c0012t0002g0055 a0007c0008t0002g0076 a0007c0083t0002g0086	4	229	0.0175	-561	c.212 others(18): Show c.2121-1325_2121-765del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914127	CCCCGAGG others(554): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCC CGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGG	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0002 a0016c0026t0002	a0016c0026t0002g0097 a0016c0026t0002g0097	1	121	0.0083	-561	c.212 others(18): Show c.2121-1429_2121-869del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
DIP2C_chr10_269201_694668	345889	TCACCCAA others(554): Show TCACCCAACCCAGACACATCGCGCATAGTTCTCCCGGGAACCCTACATAC ACCCAACCCAGACACATCACGTATAGTTCTCCCGGAAACGTCACACTCAC CCAGACACACCACGCATAGTTCTCCCGGAAACCCCACACTCACCCAACCC AGACACATCGCGCATAGTTCTCCCGGGAACCCTACATACACCCAACCCAG ACACATCACGTATAGTTCTCCCGGAAACGTCACACTCACCCAGACACACC GCGCATAGTTCTCCCAGGAACCCCACACTCACCCAACCCAGACACACCGC GCATAGTTCTCCCGGGAACCCCACACTCACCCAACCCAGACATATCGCGT ATAGTTCTCCTGGAAACGTCACACACACCCAACCCAGACACATCGCGCAT AGTTCTCCCGGAAACGTCACACACACCCAGACACATCGCGCATAGTTCTC CCGGAAACCCCACACTCACCCAACCCAGACATATCGCGTATAGTTCTCCC GGAAACGTCACACACACCCAACCCAGACATATCGCGTATAGTTCTCCCGG AAACGTCACACA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp1 HG02647.hp2 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0018 a0001c0004 a0001c0018	a0001c0004t0003 a0001c0018t0003 a0001c0004t0003 a0001c0018t0003	a0001c0004t0003g0078 a0001c0018t0003g0007 a0001c0004t0003g0078 a0001c0018t0003g0007	2	88	0.0227	-561	c.323 others(18): Show c.3232-1340_3232-780del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar
INPP5A_chr10_132532787_132788480	132717273	GCTGGCCC others(554): Show GCTGGCCCCTAAAGGGTTGGGGCTCCGAGGCTGGGACTCACTGGGTGGGG AAGTCAGGGGGCCTTTGGGTGCGGCACTGGGGATCAGCGGGTTGGTCAAG GAGCTTCCTCAAGAGCAGTGGTTGCTGTGACTCCACCCAGTGAGCAGCCT GGCTGCCCCAGGCACTTTGGGGGCTCTGCTAGCCCTGAGGCTGACCCTGC TGCTTCAGAACATCCCGCCATCTGCCTGGGTTCTGCCTGGAGGAGCCTTA GACGACTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGTCTGAGGGCGCC TTAGACGGCTGTCTTGTGGGTTCTGTGGTACCTGGGTTCTTTCTGGGGGC GCCTTAGACAGCTGTCTTCAGGGTTCTGTGGTGCCTGGGTTCTGTCTGGG CGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTGCCTGGGTTCTGTCTGG GCGCCTTAGACAGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGTCTG GGCACCTTAGACGACTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGTCT GGGCACCTTAGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp1 HG02145.hp1 others(6): Show HG01261.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp2 HG02809.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 a0001c0005 a0001c0006 a0001c0007	a0001c0005t0001 a0001c0005t0002 a0001c0005t0018 others(4): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0018 a0001c0005t0019 a0001c0006t0001 a0001c0006t0008 a0001c0007t0008	a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0002g0039 others(6): Show a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0005t0018g0038 a0001c0005t0019g0035 a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144	9	202	0.0446	-561	c.647 others(17): Show c.647+6819_647+7379del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79885890	GGGGACAC others(554): Show GGGGACACGGGACAGGGAGATGGGGATGGGAACATGGGACGTGGGGACAG GGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTG GGGACAGGAACATGGGGACACAAGACAGGGAGATGGGGATGGGAACATAG GGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGG AACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGG GGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGG GAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACG GGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGG GGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGG GACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGG GGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGG GACGTGGGGACA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02572.hp2 others(5): Show HG02109.hp2 HG02559.hp1 HG02572.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0176 others(5): Show a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0176 a0001c0001t0001g0229 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0299 a0002c0002t0001g0202	8	310	0.0258	-561	c.625 others(19): Show c.625-13115_625-12555del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(554): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG02071.hp2 HG03927.hp1 HG01993.hp1 HG02071.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0195 a0001c0001t0001g0225 a0001c0001t0001g0006 a0001c0001t0001g0195 a0001c0001t0001g0225	3	275	0.0109	-561	c.26 others(11): Show c.2603_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
MYOM2_chr8_2040046_2150456	2085560	CTGCGTGG others(554): Show CTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCT CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCG TGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCC CACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCC CCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTG TGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTC TTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGA TCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTT GTGATCTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19005.hp1 HG00735.hp1 NA19005.hp1	a0007 a0086 a0007 a0086	a0007c0100 a0086c0082 a0007c0100 a0086c0082	a0007c0100t0001 a0086c0082t0001 a0007c0100t0001 a0086c0082t0001	a0007c0100t0001g0337 a0086c0082t0001g0262 a0007c0100t0001g0337 a0086c0082t0001g0262	2	384	0.0052	-561	c.164 others(17): Show c.1644+173_1644+733del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
PRKCA_chr17_66297613_66815743	66798617	GTGGTGGT others(554): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGACGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0063 a0001c0001t0069g0063	1	158	0.0063	-561	c.185 others(19): Show c.1855-5247_1855-4687del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMOC2_chr6_168436184_168672992	168593701	GGGCATCT others(554): Show GGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC ATGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCGTCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGAGGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTC CTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTT CCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCT TCCTGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(17): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00741.hp1 HG00741.hp2 HG01261.hp1 HG01346.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG03490.hp2 HG03492.hp2 HG04204.hp1 HG06807.hp2 NA18950.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0009 a0001c0001 a0001c0002 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0003c0009t0003	a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0132 others(17): Show a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0149 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0017 a0001c0002t0002g0029 a0001c0002t0002g0058 a0001c0002t0002g0065 a0001c0002t0002g0067 a0003c0009t0003g0086	20	175	0.1143	-561	c.638 others(17): Show c.638-5116_638-4556del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
TMEM239_chr20_2811364_2823062	2822501	TAAAAGAA others(554): Show TAAAAGAACTTGATTTGCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCG TCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCC GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCC CTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTC CCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCT CCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTC TCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTC TCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCT CTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCG TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(316): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0003t0002 a0002c0002t0004 a0002c0006t0004 a0003c0004t0003 a0004c0005t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0013 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0005 a0001c0001t0005g0010 a0001c0001t0006g0004 a0001c0001t0007g0001 a0001c0001t0007g0002 a0001c0001t0007g0003 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0010g0002 a0001c0001t0011g0008 a0001c0001t0012g0001 a0001c0001t0014g0004 a0001c0001t0015g0001 a0001c0003t0002g0002 a0002c0002t0004g0002 a0002c0006t0004g0001 a0003c0004t0003g0001 a0004c0005t0004g0002	319	398	0.8015	-561	c.54 others(11): Show c.5489_*6049del	TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding		4440		chr20	TogoVar

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