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
PRDM16_chr1_3064203_3443621	3325921	TCCTCGGC others(72): Show TCCTCGGCCCTCTTGGCCCTCCTTGGCCATCCTCGACGATCCTTGGTCCT CCTTGGCCATCCTCGACCATCCTTGGCCCC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA20300.hp2 HG03225.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0056 a0002c0007t0019 a0001c0001t0056 a0002c0007t0019	a0001c0001t0056g0204 a0002c0007t0019g0020 a0001c0001t0056g0204 a0002c0007t0019g0020	2	210	0.0095	-79	c.439 others(98): Show c.439-59227_439-59149delCGGCCCTCTTGGCCCTCCTTGGCCAT CCTCGACGATCCTTGGTCCTCCTTGGCCATCCTCGACCATCCTTGGCCCC CCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151855274	CCACACAC others(72): Show CCACACACACCACCCTCCACACACCACCCTCCACACACACCACCCTCCCA CACACCGCCCTCCACACACACCATGCTCCA	C C	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	252	0.0040	-79	c.114 others(98): Show c.114+21154_114+21232delTGGAGCATGGTGTGTGTGGAGGGCGG TGTGTGGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGT GTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCA_chr17_66297613_66815743	66562105	ATTATATA others(72): Show ATTATATATATAATTAAATATATATAATTAAATTATATATATAATTAAAT TATATATATAATTAAATATATATAATTAAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02004.hp1 HG02148.hp1 HG01496.hp1 HG02004.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0004 a0001c0002t0008 a0001c0001t0008 a0001c0002t0004 a0001c0002t0008	a0001c0001t0008g0007 a0001c0002t0004g0002 a0001c0002t0008g0005 a0001c0001t0008g0007 a0001c0002t0004g0002 a0001c0002t0008g0005	3	178	0.0169	-79	c.288 others(98): Show c.288+65832_288+65910delTAATTAAATATATATAATTAAATTAT ATATATAATTAAATTATATATATAATTAAATATATATAATTAAGTTATAT ATA	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2122959	AGGGTCAT others(72): Show AGGGTCATGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGG GTCGTGGCGGTGGTTAGGTTCATGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0215 a0001c0002t0004g0215	1	286	0.0035	-79	c.335 others(98): Show c.335-12301_335-12223delGGTCATGGTGGTGGTTAGGGTCACGG TGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTCATGGTGG TGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB3IP_chr12_69733860_69828199	69759885	CTCCCAGA others(72): Show CTCCCAGACGGGGTCGCGGCTGGACAGAGGCGCTCCCCACATCTCAGACG ATGGGTGGCCGGGCAGAGACGCTCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0081 a0004c0006t0081	a0004c0006t0081g0169 a0004c0006t0081g0169	1	402	0.0025	-79	c.510 others(96): Show c.510+3236_510+3314delCGCGGCTGGACAGAGGCGCTCCCCACAT CTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTCCCAGACGGGG T	RAB3IP	ENSG00000127328.22	transcript	ENST00000247833.12	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB40B_chr17_82649973_82703698	82690657	GCAGAGAG others(72): Show GCAGAGAGTGTGCACGTGTGTGCAGGGGAAGATCTGCAGAATTGGAGGGA GATGGAGTGTGCATGTGTGTTCCTGGGGAA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	338	0.0030	-79	c.142 others(96): Show c.142+7719_142+7797delTTCCCCAGGAACACACATGCACACTCCA TCTCCCTCCAATTCTGCAGATCTTCCCCTGCACACACGTGCACACTCTCT G	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB40B_chr17_82649973_82703698	82690711	GAGTGTGC others(72): Show GAGTGTGCATGTGTGTTCCTGGGGAACAGAGAGTGTGCACGTGTGTCCAG GGGAAGATCTGCAGAATTGGAGGGAGATGA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02809.hp1 HG02818.hp1 others(5): Show HG01993.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG03041.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0004 a0001c0001t0021 a0001c0002t0004	a0001c0001t0021g0260 a0001c0002t0004g0001 a0001c0002t0004g0283 others(3): Show a0001c0001t0021g0260 a0001c0002t0004g0001 a0001c0002t0004g0283 a0001c0002t0004g0284 a0001c0002t0004g0290 a0001c0002t0004g0291	8	338	0.0237	-79	c.142 others(96): Show c.142+7665_142+7743delTCATCTCCCTCCAATTCTGCAGATCTTC CCCTGGACACACGTGCACACTCTCTGTTCCCCAGGAACACACATGCACAC T	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3032078	TCAGACTA others(72): Show TCAGACTATCGAGAGCTCCAGGTCCAGATGTGAGGTGGGAAGGGCTGGTT CCTGGGTCCCGAATCCCTTCCTGAGCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG02015.hp1 others(20): Show HG00544.hp2 HG00609.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02886.hp1 HG03209.hp1 HG03486.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18990.hp2 NA18999.hp1 NA19066.hp1 NA19085.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0008 a0001c0001 a0001c0005 a0002c0008	a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 others(18): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0036 a0001c0001t0038 a0001c0001t0066 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0122 a0001c0001t0125 a0001c0005t0023 a0001c0005t0105 a0001c0005t0120 a0002c0008t0005 a0002c0008t0074	a0001c0001t0001g0134 a0001c0001t0008g0086 a0001c0001t0018g0181 others(20): Show a0001c0001t0001g0134 a0001c0001t0008g0086 a0001c0001t0018g0181 a0001c0001t0018g0194 a0001c0001t0019g0043 a0001c0001t0021g0178 a0001c0001t0022g0107 a0001c0001t0022g0180 a0001c0001t0023g0047 a0001c0001t0036g0164 a0001c0001t0038g0190 a0001c0001t0066g0038 a0001c0001t0080g0048 a0001c0001t0081g0145 a0001c0001t0082g0023 a0001c0001t0084g0174 a0001c0001t0122g0207 a0001c0001t0125g0037 a0001c0005t0023g0111 a0001c0005t0105g0212 a0001c0005t0120g0147 a0002c0008t0005g0195 a0002c0008t0074g0033	23	218	0.1055	-79	c.218 others(96): Show c.2185-281_2185-203delTGGGTCCCGAATCCCTTCCTGAGCTCTC CAGACTATCGAGAGCTCCAGGTCCAGATGTGAGGTGGGAAGGGCTGGTTC C	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114039295	GCTGAGGA others(72): Show GCTGAGGACCCAGGAAGCCCTCCTGTGTCCCAGGGACGCTGTGCAGCAAC CCTACACTCAGACACTCACTGCGGTCCCAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02258.hp1 others(1): Show HG02257.hp1 HG02257.hp2 HG02258.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0002c0004t0004 a0002c0004t0009 a0001c0001t0004 a0002c0004t0004 a0002c0004t0009	a0001c0001t0004g0066 a0002c0004t0004g0001 a0002c0004t0004g0029 others(1): Show a0001c0001t0004g0066 a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0009g0010	4	67	0.0597	-79	c.372 others(96): Show c.372+1626_372+1704delTTGGGACCGCAGTGAGTGTCTGAGTGTA GGGTTGCTGCACAGCGTCCCTGGGACACAGGAGGGCTTCCTGGGTCCTCA G	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	4/23			chr13	TogoVar
RASGRF1_chr15_78954906_79095780	79001248	CCAGGATC others(72): Show CCAGGATCTTCCATGAATGAGCCCTAGATGCTGAGCCTCCCTGCCCACCT GTGCTGGGGTTCAGGAAGCACCTTCTGAAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	314	0.0032	-79	c.257 others(96): Show c.2575+335_2575+413delATTCAGAAGGTGCTTCCTGAACCCCAGC ACAGGTGGGCAGGGAGGCTCAGCATCTAGGGCTCATTCATGGAAGATCCT G	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	16/26			chr15	TogoVar
RASGRF1_chr15_78954906_79095780	79001261	TGAATGAG others(72): Show TGAATGAGCCCTAGATGCTGAGCCTCCCTGCCCACCTGTGCTGGGGTTCA GGAAGCACCTTCTGAATCAGGATCTTCCAC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG06807.hp2 HG02135.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0003g0159 a0001c0001t0001g0038 a0001c0001t0003g0159	2	314	0.0064	-79	c.257 others(96): Show c.2575+322_2575+400delGTGGAAGATCCTGATTCAGAAGGTGCTT CCTGAACCCCAGCACAGGTGGGCAGGGAGGCTCAGCATCTAGGGCTCATT C	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	16/26			chr15	TogoVar
RASGRF2_chr5_80955363_81235162	81017801	CTCTAGAC others(72): Show CTCTAGACTTTTCTGGACAAGGTGCAGTGGCTCACGCCTGTAATCCTAAC ACTTTGGGAGGCCGAGGCAGGTGGATCACT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp1 HG02809.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0017 a0001c0001t0003 a0001c0007t0017	a0001c0001t0003g0131 a0001c0007t0017g0018 a0001c0001t0003g0131 a0001c0007t0017g0018	2	276	0.0073	-79	c.289 others(98): Show c.289-25073_289-24995delTAGACTTTTCTGGACAAGGTGCAGTG GCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCAGGTGGATCAC TTC	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBM19_chr12_113817057_113971325	113836824	ATACACAC others(72): Show ATACACACACACACACACACGTGTCCCAAGCAATGCTTATGTGTCAGGCA TACCTGTCCTCCTACTTACTACATACACAC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA20129.hp2 HG06807.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0223 a0003c0005t0001g0268 a0001c0001t0001g0223 a0003c0005t0001g0268	2	356	0.0056	-79	c.278 others(98): Show c.2785+7765_2785+7843delGTGTGTATGTAGTAAGTAGGAGGACA GGTATGCCTGACACATAAGCATTGCTTGGGACACGTGTGTGTGTGTGTGT GTA	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23			chr12	TogoVar
RBM19_chr12_113817057_113971325	113872588	CTGCCCGG others(72): Show CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAAGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp2 HG01070.hp2 others(29): Show HG00408.hp2 HG00673.hp2 HG01070.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01952.hp1 HG02145.hp2 HG02273.hp2 HG02293.hp2 HG02698.hp1 HG02735.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp2 NA18959.hp1 NA18960.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA19002.hp1 NA19056.hp2 NA19064.hp1 NA19067.hp1 NA19070.hp2 NA19079.hp1 NA19087.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0004 a0001c0006 a0001c0010 others(4): Show a0001c0004 a0001c0006 a0001c0010 a0001c0028 a0003c0014 a0007c0016 a0007c0022	a0001c0004t0004 a0001c0004t0008 a0001c0006t0004 others(6): Show a0001c0004t0004 a0001c0004t0008 a0001c0006t0004 a0001c0010t0001 a0001c0010t0009 a0001c0028t0004 a0003c0014t0004 a0007c0016t0004 a0007c0022t0001	a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0144 others(29): Show a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0144 a0001c0004t0004g0168 a0001c0004t0004g0169 a0001c0004t0004g0173 a0001c0004t0004g0175 a0001c0004t0004g0176 a0001c0004t0004g0177 a0001c0004t0004g0178 a0001c0004t0004g0181 a0001c0004t0004g0182 a0001c0004t0004g0187 a0001c0004t0004g0188 a0001c0004t0004g0190 a0001c0004t0004g0192 a0001c0004t0004g0194 a0001c0004t0008g0139 a0001c0004t0008g0165 a0001c0004t0008g0166 a0001c0004t0008g0167 a0001c0006t0004g0097 a0001c0006t0004g0104 a0001c0010t0001g0185 a0001c0010t0009g0170 a0001c0010t0009g0186 a0001c0010t0009g0196 a0001c0028t0004g0171 a0003c0014t0004g0156 a0007c0016t0004g0145 a0007c0016t0004g0147 a0007c0022t0001g0146	32	356	0.0899	-79	c.255 others(100): Show c.2559-13771_2559-13693delAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCTTCACCTCCCGGACGGGGCGGCTGGCC GGGCA	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RCBTB1_chr13_49526946_49590558	49565524	AGTGAGGA others(72): Show AGTGAGGAGCGCCTCTTCCCGGCCGCCACCCCATCTAGGAAGTGAGGAGC GTCTCTGCCCGGCCGCCCATCGTCTGGGAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	418	0.0024	-79	c.277 others(96): Show c.277+1015_277+1093delATCCCAGACGATGGGCGGCCGGGCAGAG ACGCTCCTCACTTCCTAGATGGGGTGGCGGCCGGGAAGAGGCGCTCCTCA C	RCBTB1	ENSG00000136144.12	transcript	ENST00000378302.7	protein_coding	4/12			chr13	TogoVar
RERE_chr1_8347404_8822640	8699278	CCCAGGTA others(72): Show CCCAGGTATCACAGTGAGTAAGTGGTAAACTAAGAATAGAACTCAAACTC AGACAGCCTAACTATTTACCACTACGCTGT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03669.hp2 HG02602.hp1 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0035 a0001c0002t0002 a0001c0002t0035	a0001c0002t0002g0149 a0001c0002t0035g0160 a0001c0002t0002g0149 a0001c0002t0035g0160	2	204	0.0098	-79	c.-14 others(100): Show c.-144-42916_-144-42838delACAGCGTAGTGGTAAATAGTTAGG CTGTCTGAGTTTGAGTTCTATTCTTAGTTTACCACTTACTCACTGTGATA CCTGG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RGS10_chr10_119494817_119547719	119519597	GTCCCCCA others(72): Show GTCCCCCAGCTCCTGTCTCCCTGTATCTGTCTCCCAGCTCCTGTCTCCCT GTCTGTCTCCCAGCTCCTGTCTCCCTGTCT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02257.hp1 others(19): Show HG01884.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0103 others(18): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0002g0017 a0001c0001t0002g0056 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0117 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0003g0335	22	393	0.0560	-79	c.256 others(96): Show c.256-4024_256-3946delAGACAGGGAGACAGGAGCTGGGAGACAG ACAGGGAGACAGGAGCTGGGAGACAGATACAGGGAGACAGGAGCTGGGGG A	RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding	3/4			chr10	TogoVar
RGS17_chr6_152999459_153136282	153053922	TATGTATA others(72): Show TATGTATATATATGTATATATAATATATATACATATATATTATATACATA TATATGTATATATGTATATAATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG03225.hp2 others(1): Show HG02055.hp1 HG02965.hp1 HG03225.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0040 a0001c0001t0049 a0001c0002t0004 a0001c0001t0040 a0001c0001t0049 a0001c0002t0004	a0001c0001t0040g0277 a0001c0001t0049g0274 a0001c0002t0004g0127 others(1): Show a0001c0001t0040g0277 a0001c0001t0049g0274 a0001c0002t0004g0127 a0001c0002t0004g0128	4	338	0.0118	-79	c.-25 others(96): Show c.-25-9958_-25-9880delGTATATATATTATATACATATATACATA TATATGTATATAATATATATGTATATATATTATATATACATATATATACA T	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RMND1_chr6_151399762_151457126	151450407	GGTCAGCC others(72): Show GGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGG GCCAGCCCCCGTCCGGGAGGAAGGTGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(42): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01952.hp1 HG02027.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02273.hp1 HG03710.hp2 HG04115.hp1 NA18946.hp1 NA18949.hp1 NA18980.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA19000.hp2 NA19003.hp2 NA19010.hp1 NA19067.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014	a0001c0001t0003g0018 a0001c0001t0003g0324 a0001c0001t0003g0325 others(41): Show a0001c0001t0003g0018 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0003g0363 a0001c0001t0003g0364 a0001c0001t0003g0365 a0001c0001t0003g0366 a0001c0001t0003g0367 a0001c0001t0003g0368 a0001c0001t0007g0334 a0001c0001t0007g0344 a0001c0001t0007g0351 a0001c0001t0013g0342 a0001c0001t0014g0343	45	392	0.1148	-79	c.-15 others(96): Show c.-15+1530_-15+1608delACCCCACCTTCCTCCCGGACGGGGGCTG GCCCCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCGGGCGGGGGGCTGA C	RMND1	ENSG00000155906.20	transcript	ENST00000444024.3	protein_coding	1/11			chr6	TogoVar
RNASET2_chr6_166917113_166961550	166955293	CAGACGCG others(72): Show CAGACGCGCACACACGACACACACGCACACACACGCACGCACGCACACGC ACACGCACGCACACACACACGCACACACAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02056.hp1 others(22): Show HG01243.hp2 HG01884.hp2 HG02056.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03490.hp1 HG03579.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0002c0006 a0003c0010 a0006c0011	a0001c0001t0001 a0001c0001t0046 a0001c0001t0051 others(16): Show a0001c0001t0001 a0001c0001t0046 a0001c0001t0051 a0001c0001t0056 a0001c0002t0105 a0001c0002t0106 a0001c0003t0007 a0001c0003t0016 a0001c0003t0027 a0001c0003t0028 a0001c0003t0110 a0001c0003t0111 a0002c0004t0015 a0002c0004t0080 a0002c0004t0082 a0002c0006t0015 a0003c0010t0024 a0003c0010t0027 a0006c0011t0107	a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0178 others(22): Show a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0046g0174 a0001c0001t0051g0173 a0001c0001t0056g0172 a0001c0002t0105g0175 a0001c0002t0106g0176 a0001c0003t0007g0168 a0001c0003t0007g0169 a0001c0003t0016g0179 a0001c0003t0016g0182 a0001c0003t0027g0171 a0001c0003t0028g0163 a0001c0003t0110g0184 a0001c0003t0111g0185 a0002c0004t0015g0166 a0002c0004t0080g0181 a0002c0004t0082g0165 a0002c0006t0015g0164 a0003c0010t0024g0024 a0003c0010t0027g0025 a0006c0011t0107g0170	25	346	0.0723	-79	c.86+ others(92): Show c.86+725_86+803delTTGTGTGTGCGTGTGTGTGTGCGTGCGTGTGC GTGTGCGTGCGTGCGTGTGTGTGCGTGTGTGTCGTGTGTGCGCGTCT	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar
RNF126_chr19_642526_668214	667393	GCCCAGGT others(72): Show GCCCAGGTGGACCACGTCCCAGGCGGACCACGTCCCAGGCGGACCAAGCC CAGGTGGACCACGTCCCAGGCGGACCATGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	434	0.0023	-79	c.-43 others(90): Show c.-4351_-4273delACATGGTCCGCCTGGGACGTGGTCCACCTGGGCT TGGTCCGCCTGGGACGTGGTCCGCCTGGGACGTGGTCCACCTGGG	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4180		chr19	TogoVar
RPH3AL_chr17_207389_357807	343924	ATCATCAC others(72): Show ATCATCACCATCATCATCATAATATTCACCATCATCACCATCAGTCATCA TCATTACCATCACCATCACTGTCATCTCTG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01255.hp1 others(11): Show HG01070.hp1 HG01070.hp2 HG01255.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01943.hp2 HG02055.hp1 HG02738.hp2 HG03017.hp2 NA18906.hp1 NA18963.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0001t0032 a0001c0002t0001 a0001c0002t0009 a0001c0003t0018 a0003c0005t0023	a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0003g0098 others(11): Show a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0003g0098 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0007g0097 a0001c0001t0008g0130 a0001c0001t0010g0129 a0001c0001t0020g0127 a0001c0001t0032g0004 a0001c0002t0001g0123 a0001c0002t0009g0126 a0001c0003t0018g0019 a0003c0005t0023g0125	14	133	0.1053	-79	c.-21 others(98): Show c.-213+8709_-213+8787delCAGAGATGACAGTGATGGTGATGGTA ATGATGATGACTGATGGTGATGATGGTGAATATTATGATGATGATGGTGA TGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPL28_chr19_55380932_55397085	55396480	CCCCTCCC others(72): Show CCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCCTCCCCACCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	314	0.0032	-79	c.81 others(90): Show c.8149_*8227delCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCCT CCCCACCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	RPL28	ENSG00000108107.15	transcript	ENST00000344063.7	protein_coding		4396		chr19	TogoVar
SAMHD1_chr20_36885229_36956708	36947476	GGTGTGTG others(72): Show GGTGTGTGTGTGTGTGAGTGTGTGTGTGTGTGTGTGTGTCCTGGGAAAGC ACTCAATACTCTGATTTGGAAGAGGGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0038 a0001c0001t0005g0039	2	340	0.0059	-79	c.209 others(94): Show c.209-751_209-673delACACCCCTCTTCCAAATCAGAGTATTGAGT GCTTTCCCAGGACACACACACACACACACACACTCACACACACACACAC	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36948895	GAAAAGAA others(72): Show GAAAAGAAAAGAAGAAAGACTATTTCTACAGGGAGAAAGCTCCAATATCA GATATCTGCAAGAGGCTCAGGAATCAAACA	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0123 a0001c0001t0062g0123	1	340	0.0029	-79	c.209 others(96): Show c.209-2170_209-2092delTGTTTGATTCCTGAGCCTCTTGCAGATA TCTGATATTGGAGCTTTCTCCCTGTAGAAATAGTCTTTCTTCTTTTCTTT T	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SARDH_chr9_133658560_133743352	133668415	TCCCTCTC others(72): Show TCCCTCTCCCTTCACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCGCCCT CCCTCTCCCCTCGCCCTCCCTCTCCCCTCA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp2 HG00639.hp1 HG01496.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0010 a0001c0006t0002g0024 a0001c0006t0002g0010 a0001c0006t0002g0024	2	262	0.0076	-79	c.249 others(98): Show c.2496-1624_2496-1546delTGAGGGGAGAGGGAGGGCGAGGGGAG AGGGAGGGCGAGGGAGAGGGAGGGTAAGGGAGAGGGAGGGTGAAGGGAGA GGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668914	CTCTCTCC others(72): Show CTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCC CTCACCTTCCCTCTCCCTCACCCTCCATCT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA19003.hp1 HG01168.hp2 NA19003.hp1	a0002 a0002	a0002c0004 a0002c0020 a0002c0004 a0002c0020	a0002c0004t0002 a0002c0020t0003 a0002c0004t0002 a0002c0020t0003	a0002c0004t0002g0033 a0002c0020t0003g0207 a0002c0004t0002g0033 a0002c0020t0003g0207	2	262	0.0076	-79	c.249 others(98): Show c.2495+1591_2495+1669delAGATGGAGGGTGAGGGAGAGGGAAGG TGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAG AGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669124	CTCTCTCC others(72): Show CTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCC CTCACCTTCCCTCTCCCTCACCCTCCATCT	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0233 a0002c0008t0002g0233	1	262	0.0038	-79	c.249 others(98): Show c.2495+1381_2495+1459delAGATGGAGGGTGAGGGAGAGGGAAGG TGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAG AGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCUBE1_chr22_43192280_43348372	43205704	CCACTCAC others(72): Show CCACTCACCACACACTCACCCCCACACACACCACACGCCCACTCACCACT CACCCACACACACACCACCCACTCACCACA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA20300.hp1 HG02572.hp2 NA20300.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0034 a0002c0025t0073 a0002c0025t0034 a0002c0025t0073	a0002c0025t0034g0018 a0002c0025t0073g0258 a0002c0025t0034g0018 a0002c0025t0073g0258	2	280	0.0071	-79	c.281 others(98): Show c.2815-1634_2815-1556delTGTGGTGAGTGGGTGGTGTGTGTGTG GGTGAGTGGTGAGTGGGCGTGTGGTGTGTGTGGGGGTGAGTGTGTGGTGA GTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	21/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280580	CCTGCAGA others(72): Show CCTGCAGACATCCTCCTGCTACCTTTCCCCTGCTACGCTGTCACCTCCTC TCTCAGCCATGCTCCTACCAACTTCCCCTA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02027.hp1 NA18948.hp1 others(5): Show HG01358.hp1 HG02027.hp1 NA18948.hp1 NA18971.hp2 NA18983.hp2 NA19003.hp1 NA19005.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0001c0013 a0002c0002 others(2): Show a0001c0008 a0001c0013 a0002c0002 a0002c0052 a0003c0001	a0001c0008t0009 a0001c0013t0004 a0002c0002t0002 others(2): Show a0001c0008t0009 a0001c0013t0004 a0002c0002t0002 a0002c0052t0002 a0003c0001t0001	a0001c0008t0009g0115 a0001c0013t0004g0116 a0002c0002t0002g0080 others(5): Show a0001c0008t0009g0115 a0001c0013t0004g0116 a0002c0002t0002g0080 a0002c0052t0002g0048 a0003c0001t0001g0101 a0003c0001t0001g0118 a0003c0001t0001g0215 a0003c0001t0001g0251	8	280	0.0286	-79	c.484 others(98): Show c.484+10387_484+10465delTAGGGGAAGTTGGTAGGAGCATGGCT GAGAGAGGAGGTGACAGCGTAGCAGGGGAAAGGTAGCAGGAGGATGTCTG CAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SEMA3E_chr7_83358238_83654139	83389851	ATATACAC others(72): Show ATATACACGTATATATTACATGTATACATATATACACGTATATATTACAT GTATACATATATACACGTATATATTACATG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0118	1	226	0.0044	-79	c.166 others(98): Show c.1667+2625_1667+2703delCATGTAATATATACGTGTATATATGT ATACATGTAATATATACGTGTATATATGTATACATGTAATATATACGTGT ATA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838284	CCTTCCTT others(72): Show CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02896.hp1 HG03139.hp2 others(1): Show HG01433.hp2 HG02896.hp1 HG03139.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0001c0001t0030 a0002c0005t0002 a0001c0001t0002 a0001c0001t0030 a0002c0005t0002	a0001c0001t0002g0081 a0001c0001t0002g0106 a0001c0001t0030g0107 others(1): Show a0001c0001t0002g0081 a0001c0001t0002g0106 a0001c0001t0030g0107 a0002c0005t0002g0104	4	346	0.0116	-79	c.169 others(96): Show c.169+5386_169+5464delTTCCTTCCTTCCTTCCTTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT C	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169579	ATATATAA others(72): Show ATATATAATATATTGTATATTACATATATTGTATATTACATATAATATAT TGTATATTACATATATTGTATATTACATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02970.hp1 HG03209.hp1 HG02886.hp2 HG02970.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022	a0001c0001t0012g0075 a0001c0001t0020g0073 a0001c0001t0022g0341 a0001c0001t0012g0075 a0001c0001t0020g0073 a0001c0001t0022g0341	3	366	0.0082	-79	c.-15 others(90): Show c.-1520_-1442delATATGTAATATACAATATATGTAATATACAATAT ATTATATGTAATATACAATATATGTAATATACAATATATTATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1318		chr6	TogoVar
SERGEF_chr11_17783048_18018047	17925188	TGGGCACC others(72): Show TGGGCACCACGAAAGAGATACAGTAACCCACCAAGTCTCTAAGGTCCCAG AAGTCCATCTGTCTGTCACACACATCACAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0002c0003 others(9): Show a0001c0001 a0001c0002 a0002c0003 a0002c0012 a0003c0005 a0004c0006 a0004c0010 a0005c0004 a0006c0007 a0007c0008 a0008c0011 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0012t0002 a0003c0005t0002 a0004c0006t0002 a0004c0010t0001 a0005c0004t0001 a0006c0007t0001 a0006c0007t0002 a0007c0008t0002 a0008c0011t0001 a0009c0009t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(211): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0039 a0001c0002t0001g0086 a0001c0002t0002g0001 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0002c0003t0001g0006 a0002c0003t0001g0013 a0002c0003t0001g0016 a0002c0003t0001g0020 a0002c0003t0001g0036 a0002c0003t0001g0038 a0002c0003t0001g0046 a0002c0003t0001g0048 a0002c0003t0001g0058 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0100 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0123 a0002c0003t0002g0142 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0210 a0002c0003t0002g0218 a0002c0003t0002g0222 a0002c0012t0002g0156 a0003c0005t0002g0223 a0003c0005t0002g0224 a0003c0005t0002g0225 a0004c0006t0002g0165 a0004c0006t0002g0178 a0004c0010t0001g0072 a0005c0004t0001g0002 a0005c0004t0001g0003 a0005c0004t0001g0004 a0006c0007t0001g0101 a0006c0007t0002g0147 a0007c0008t0002g0136 a0008c0011t0001g0032 a0009c0009t0001g0017	215	226	0.9513	-79	c.101 others(100): Show c.1011+34203_1011+34281delTTGTGATGTGTGTGACAGACAGAT GGACTTCTGGGACCTTAGAGACTTGGTGGGTTACTGTATCTCTTTCGTGG TGCCC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SH2D1A_chrX_124341563_124378160	124350843	TAATATAT others(72): Show TAATATATTATATATTGTATATAAGATATAATATATTATATATTGTATAT AAGATATAATATATTATATATTGTATATAA	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	318	0.0031	-79	c.137 others(96): Show c.137+4065_137+4143delAATATATTATATATTGTATATAAGATAT AATATATTATATATTGTATATAAGATATAATATATTATATATTGTATATA A	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3			chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124350844	AATATATT others(72): Show AATATATTATATATTGTATATAAGATATAATATATTATATATTGTATATA AGATATAATATATTATATATTGTATATAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp1 HG02109.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0012 a0001c0001t0001 a0001c0003t0012	a0001c0001t0001g0030 a0001c0003t0012g0031 a0001c0001t0001g0030 a0001c0003t0012g0031	2	318	0.0063	-79	c.137 others(96): Show c.137+4135_137+4213delTGTATATAAGATATATTATATATTGTAT ATAAGATATAATATATTATATATTGTATATAAGATATAATATATTATATA T	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH3BGRL2_chr6_79626329_79708655	79677513	GGAGGTTG others(72): Show GGAGGTTGTTTGTGGCAGTGAGTGTCCAGGGGTGATGGGGCCAACCATAG CTGTGGCTGGTGTCCTTATGCAGCTCATCT	G G	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	348	0.0029	-79	c.231 others(96): Show c.231+3716_231+3794delAGGTTGTTTGTGGCAGTGAGTGTCCAGG GGTGATGGGGCCAACCATAGCTGTGGCTGGTGTCCTTATGCAGCTCATCT G	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SH3BP2_chr4_2788085_2846096	2800981	AGGCTGGC others(72): Show AGGCTGGCTCCGAGGGAGGAAGGAGCTGGGCTGTGGGCGGCCTGGCCTTG GGAAGGGGGCTGGACAGTTGCATGGTTGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(39): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01516.hp2 HG01928.hp2 HG01952.hp1 HG02015.hp1 HG02083.hp1 HG02129.hp1 HG02258.hp1 HG02273.hp1 HG02615.hp1 HG02698.hp2 HG03239.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp2 NA18944.hp2 NA18947.hp2 NA18971.hp2 NA18981.hp2 NA18984.hp1 NA19004.hp1 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0022 a0001c0001t0030 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0073 a0001c0003t0002 a0001c0003t0013 a0001c0004t0004 a0001c0004t0089 a0001c0005t0002 a0001c0005t0004 a0004c0013t0053	a0001c0001t0001g0035 a0001c0001t0001g0230 a0001c0001t0001g0231 others(31): Show a0001c0001t0001g0035 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0299 a0001c0001t0002g0033 a0001c0001t0003g0036 a0001c0001t0004g0287 a0001c0001t0009g0282 a0001c0001t0011g0010 a0001c0001t0011g0033 a0001c0001t0018g0009 a0001c0001t0022g0220 a0001c0001t0030g0035 a0001c0001t0041g0233 a0001c0001t0044g0232 a0001c0001t0045g0276 a0001c0001t0066g0283 a0001c0001t0067g0206 a0001c0001t0068g0229 a0001c0001t0073g0207 a0001c0003t0002g0277 a0001c0003t0013g0124 a0001c0004t0004g0008 a0001c0004t0004g0031 a0001c0004t0089g0074 a0001c0005t0002g0198 a0001c0005t0002g0200 a0001c0005t0002g0202 a0001c0005t0004g0201 a0004c0013t0053g0284	42	378	0.1111	-79	c.-5+ others(94): Show c.-5+7847_-5+7925delTGGCTCCGAGGGAGGAAGGAGCTGGGCTGT GGGCGGCCTGGCCTTGGGAAGGGGGCTGGACAGTTGCATGGTTGGGGGC	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3RF3_chr2_109124205_109509634	109199431	AATGGAAT others(72): Show AATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGG AATGGAATGGAATGGATGGAATGGAATGGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0087 a0001c0001t0067g0087	1	172	0.0058	-79	c.573 others(98): Show c.573+69384_573+69462delTGGAATGGAATGGGATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC12A7_chr5_1045384_1117063	1048561	GTGGGTGA others(72): Show GTGGGTGAGTTAGTGTATGAGTGGGCAAGTTAGTGTGTGAATGGGTGGGT GAGTTGAGTGGGTGTGTGAACAAGTGGGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0093 a0001c0014t0003g0093	1	118	0.0085	-79	c.37 others(90): Show c.3720_*3798delAACCCACTTGTTCACACACCCACTCAACTCACCC ACCCATTCACACACTAACTTGCCCACTCATACACTAACTCACCCA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		1822		chr5	TogoVar
SLC25A6_chrX_1381152_1397113	1394419	GTTTCCTG others(72): Show GTTTCCTGCCTTTCCCTGTCTCTCCCTTTCTTTCCTGCCTTTCCCTGCCT CTCTCTTTCCTGCCTTTCCCCATCTCTCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0044 a0001c0010t0001g0044	1	196	0.0051	-79	c.-24 others(90): Show c.-2489_-2411delGGGAGAGATGGGGAAAGGCAGGAAAGAGAGAGGC AGGGAAAGGCAGGAAAGAAAGGGAGAGACAGGGAAAGGCAGGAAA	SLC25A6	ENSG00000169100.14	transcript	ENST00000381401.11	protein_coding		2307		chrX	TogoVar
SLC28A1_chr15_84879662_84950798	84928549	TCTTTCTT others(72): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTCTTTCTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG01256.hp1 others(5): Show HG01109.hp1 HG01175.hp2 HG01256.hp1 HG01496.hp2 HG03041.hp2 HG03579.hp2 HG06807.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0018 others(1): Show a0001c0002 a0001c0004 a0002c0018 a0003c0019	a0001c0002t0001 a0001c0004t0005 a0001c0004t0006 others(2): Show a0001c0002t0001 a0001c0004t0005 a0001c0004t0006 a0002c0018t0005 a0003c0019t0005	a0001c0002t0001g0009 a0001c0004t0005g0284 a0001c0004t0005g0285 others(5): Show a0001c0002t0001g0009 a0001c0004t0005g0284 a0001c0004t0005g0285 a0001c0004t0006g0377 a0002c0018t0005g0034 a0003c0019t0005g0003 a0003c0019t0005g0103 a0003c0019t0005g0287	8	396	0.0202	-79	c.108 others(98): Show c.1083+4440_1084-4517delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCT TTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18			chr15	TogoVar
SLC2A14_chr12_7807514_7877915	7874927	TTATATAT others(72): Show TTATATATAATTTATATATAAATATATTTATATATAAATTATATATAAAT ATATTTATATATAAATTATATATAAATACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG03831.hp2 NA19089.hp2 HG02027.hp2 HG03831.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0003 a0001c0003t0001 a0002c0001t0002 a0001c0002t0003 a0001c0003t0001 a0002c0001t0002	a0001c0002t0003g0055 a0001c0003t0001g0047 a0002c0001t0002g0030 a0001c0002t0003g0055 a0001c0003t0001g0047 a0002c0001t0002g0030	3	350	0.0086	-79	c.-22 others(90): Show c.-2257_-2179delTGTATTTATATATAATTTATATATAAATATATTT ATATATAATTTATATATAAATATATTTATATATAAATTATATATA	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		2013		chr12	TogoVar
SLC35E2B_chr1_1656478_1697795	1666076	TGGCCAGC others(72): Show TGGCCAGCAGCTCGGCTGAGCCTGGGTCTGGAGGCTGGGTGGGGTTGGGG GACTCAGCGTCACGGTGACATCAGCCCTGC	T T	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0073 a0002c0003t0073	a0002c0003t0073g0167 a0002c0003t0073g0167	1	348	0.0029	-79	c.981 others(93): Show c.981-136_981-58delGCAGGGCTGATGTCACCGTGACGCTGAGTCC CCCAACCCCACCCAGCCTCCAGACCCAGGCTCAGCCGAGCTGCTGGCC	SLC35E2B	ENSG00000189339.12	transcript	ENST00000617444.5	protein_coding	9/9			chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203426	AGAGAGGG others(72): Show AGAGAGGGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGGGAGAGAGGGAGAGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0035 a0001c0008t0005g0035	1	188	0.0053	-79	c.80 others(90): Show c.8067_*8145delCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCCCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3747		chr8	TogoVar
SLC7A1_chr13_29504414_29600688	29559031	GGGGAGAG others(72): Show GGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAA TCTGAATGAGGGGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18962.hp2 NA18965.hp2 others(3): Show NA18942.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18985.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0199 a0001c0001t0001g0200 others(3): Show a0001c0001t0001g0126 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205	6	330	0.0182	-79	c.-11 others(98): Show c.-114-5250_-114-5172delTCACTCACATTCACTCCCCCCTCATT CAGATTCACTCTGCCTCACTCACATTCTCTCCCCCTCACTCACATTCTCT CCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559152	GGGGAGTG others(72): Show GGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAA TGTGAGTGAGGGGGAGTGAATGTGAGTGAC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03098.hp2 HG02735.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0277 a0001c0004t0001g0088 a0001c0001t0002g0277 a0001c0004t0001g0088	2	330	0.0061	-79	c.-11 others(98): Show c.-114-5371_-114-5293delGTCACTCACATTCACTCCCCCTCACT CACATTCTCTCCCCCTCACTCACATTCTCTCCCCCTCACTCACATTCACT CCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559332	GGGGGAGT others(72): Show GGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGAGGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0159 a0001c0002t0002g0159	1	330	0.0030	-79	c.-11 others(98): Show c.-114-5551_-114-5473delTCACTCACATTCTCTCCCCCTCACTC ACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTC CCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A3_chr5_465456_529449	505329	GGAGAGTG others(72): Show GGAGAGTGACTGTAGGGGGGTGGGGAGTGACCATGGAAGGGGGAGAGTGA CTGTTGGGGGGTGGGGAGTGACCGCGGGGT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18951.hp1 HG03471.hp2 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0021 a0002c0002t0002 a0001c0001t0021 a0002c0002t0002	a0001c0001t0021g0127 a0002c0002t0002g0145 a0001c0001t0021g0127 a0002c0002t0002g0145	2	218	0.0092	-79	c.212 others(98): Show c.212-13337_212-13259delACCCCGCGGTCACTCCCCACCCCCCA ACAGTCACTCTCCCCCTTCCATGGTCACTCCCCACCCCCCTACAGTCACT CTC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	505346	GGGTGGGG others(72): Show GGGTGGGGAGTGACCATGGAAGGGGGAGAGTGACTGTTGGGGGGTGGGGA GTGACCGCGGGGTGAAGAGTGACTGTAGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18963.hp1 NA19010.hp2 others(1): Show HG01496.hp2 NA18963.hp1 NA19010.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0033 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0033 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0071 a0001c0001t0033g0188 a0002c0002t0002g0015 others(1): Show a0001c0001t0001g0071 a0001c0001t0033g0188 a0002c0002t0002g0015 a0002c0002t0003g0203	4	218	0.0184	-79	c.212 others(98): Show c.212-13354_212-13276delTCCTACAGTCACTCTTCACCCCGCGG TCACTCCCCACCCCCCAACAGTCACTCTCCCCCTTCCATGGTCACTCCCC ACC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar

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